Gene_symbol,Significant_Variants_SNPS,Methods,PubMed_ID ABCB1,rs1128503,PCR; TaqMan genotyping,23443032 ABCB1,rs1045642,RFLP,19760622 ACSS2,rs59088485T>C (p.Val496Ala),WES and Sanger sequencing,27229527 ADAMTS20,rs10785430,GWAS,25798845 ARHGAP29,c. 94A>T,DNA extraction and polymerase chain reaction,25512736 ARHGAP29,rs1541098,Genotyping,25163644 ARHGAP29,rs3789688,Genotyping,25163644 ARHGAP29,rs1576593,Genotyping,25163644 ARHGAP29,rs560426,GWAS,3221112 ARHGAP29,c.62_63delCT; p.S21Yfs*20,Sequencing,23008150 ARHGAP29,c.76A>G; p.Thr26Ala,Sequencing,23008150 ARHGAP29,c.137A>G; p.Lys46Arg,Sequencing,23008150 ARHGAP29,c.888G>C; p.Arg296Ser,Sequencing,23008150 ARHGAP29,c.976A>T; p.Lys326*,Sequencing,23008150 ARHGAP29,rs148959325; c.1252G>A; p.Val418Ile,Sequencing,23008150 ARHGAP29,c.1847G>A; p.Arg616His,Sequencing,23008150 ARHGAP29,c1865C>T; p.Thr622Met,Sequencing,23008150 ARHGAP29,c.2017T>G; p.Phe673Val,Sequencing,23008150 ARHGAP29,rs113546321; c.2864G>A; p.Arg955His,Sequencing,23008150 ARHGAP29,rs140638899; c.3023G>A; p.Arg1008Lys,Sequencing,23008150 ARHGAP29,c.3425G>A; p.Arg1142Gln,Sequencing,23008150 ARHGAP29,c.3604G>T; p.Val1202Leu,Sequencing,23008150 ARHGAP29,rs1999272; c.3764G>A; p.Asp1255Gly,Sequencing,23008150 ARHGAP29,c.2492G>A; p.Ala832Thr,Sequencing,23008150 ARHGAP29,c.2533A>G; p.Ile845Val,Sequencing,23008150 ARHGAP29,c.976A>T; p.Lys326*,GWAS and Sanger sequencing,25704602 ARHGAP29,c.1939C>T; p.Arg647*,GWAS and Sanger sequencing,25704602 ARHGAP29,c.2367G>T; p.Trp789*,GWAS and Sanger sequencing,25704602 ARHGAP29,c.3118G>T; p.Gly1040*,GWAS and Sanger sequencing,25704602 ARHGAP29,c.1920+1G>A,Chromoosme miroarray; WES and Sanger sequencing,32698641 ARHGAP29,c.2864G>A; p.Arg955His,GWAS,25081408 ARHGAP29,c.2738C>A; p.Ser913Leu,GWAS,25081408 ARHGAP29,rs481931C>A,GWAS,28232668 ARHGAP29,rs4147803C>G,GWAS,28232668 ARHGAP29,c.2615C>T; p.A872V,WES,33150183 ARHGAP29,rs4147882,Genotyping and GWAS,27033726 ARHGAP29,rs12088309,Genotyping and GWAS,27033726 ARHGAP29,rs3789431,Genotyping and GWAS,27033726 AQP7,c.538C>T; p.G180R,WES and Sanger sequencing,26449438 AXIN2,rs2240307,PCR,24484320 AXIN2,rs7224837,Family-based Association Test,22370446 AXIN2,rs1133683C>T (homozygous; increase risk),PCR-RFLP,31268379 AXIN2,rs7210356G>A,Genontyping; TDT,28376813 AXIN2,rs11655966*T,Genotyping,26602496 ASS1,rs7860909A>G,PCR-RFLP,20739017 BAG4,rs7836805,Genotyping,17366557 BCL3,rs8100239T>A,Genotyping,20572854 BCL3,rs8103315C>A,Genotyping,20572854 BHMT2,rs625879G>T,PCR-RFLP,20662904 BHMT2,rs673752C>T,PCR-RFLP,20662904 BMP4,rs17563; c.538T>C,Polymerase chain reaction-restriction fragment length polymorphism ,26424979 BMP4,rs17563 C allele,PCR-RFLP,23227324 BMP4,rs17563,Real-time polymerase chain reaction using the Taqman assay method,23237431 BMP4,rs10130587,Genotyping,22514733 BMP4,rs2738265,Genotyping,22514733 BMP4,rs2761887,Genotyping,22514733 BMP4,rs762642,Genotyping,22514733 BMP4,c.-5514G > A,PCR,22182590 BMP4,c.-5365C > T,PCR,22182590 BMP4,c.-5049C > T,PCR,22182590 BMP4,rs2855530,PCR,22182590 BMP4,rs17563,Genotyping,19914800 BMP4,rs762642,TDT,19839778 BMP4,rs2855532,TDT,19839778 BMP4,rs1957860,TDT,19839778 BMP4,c.538T>C,PCR; RFLP,18771417 BMP4,rs17563,GWAS,3221112 BMP4,rs762642T>G,Direct sequencing; PCR,29860186 BMP4,rs17563T>C,Direct sequencing; PCR,29860186 BMP4,rs10130587C>G,Direct sequencing; PCR,29860186 BMP4,rs35107139T>G,Direct sequencing; PCR,29860186 BMP4,c.455T>C; p.V152A,WES and Sanger sequencing,26449438 CBS,c.844ins68,TDT,16007597 CBS,rs4920037,Genotyping,21564312 CBS,c.844ins68,Genotyping ,24437588 CBS,rs234706; c.699C>T ,Genotyping,18203168 CDH1,c.760G>A; p.Asp254Asn,Next-generation sequencing (NGS; exome or targeted gene sequencing) and Sanger sequencing (SS),26123647 CDH1,rs1801552,TaqMan genotyping,24838934 CDH1,rs16260,PCR-RFLP,20880515 CDH1,rs1801552C>T,Genotyping,28151848 CDH1,c.760G>A; p.Asp254Asn,exome or targeted gene sequencing and Sanger sequencing ,26123647 CDH1,c.468G>C; pTrp156Cys (heterozygous),WES and Sanger sequencing,3168429 CDH1,g.68844164C>T; p.Thr251Met,WES and Sanger sequencing,29805042 CDH1,g.68844172G>A; p.Asp254Asn,WES and Sanger sequencing,29805042 CDH1,g.68844180T>A; p.Asn256Lys,WES and Sanger sequencing,29805042 CDH1,g.68849586G>A; p.Glu497Lys,WES and Sanger sequencing,29805042 CDH1,g.68855958A>T; p.Asn589Ile,WES and Sanger sequencing,29805042 CDH1,g.68863687_68863688del; p.Asn809Ilefs*3,WES and Sanger sequencing,29805042 CDH2,rs539075T>G,Genotyping,29524576 CDH2,rs539075T>G,ARMS-PCR; ,29524576 CENPJ,c.61T>C; p.V509A,WES and Sanger sequencing,26449438 CHD7,c.7165-4A>G (heterozygous),Exome sequencing and Sanger sequencing,31060112 CLPTM1,IVS7-10G>A; ,PCR and direct sequencing,16122939 CLPTM1,p.Gly331Gly; ,PCR and direct sequencing,16122939 CLPTM1,p.Ala88Ala; ,PCR and direct sequencing,16122939 CLPTM1,p.Pro309Pro,PCR and direct sequencing,16122939 COL4A2,c.4096G>A; p.D1366N,WES and Sanger sequencing,26449438 COL4A3,c.4243G>D; p.G1415R and c.4216G>A; p.G1406R (compound heterozygous),WES and Sanger sequencing,33524082 COL21A1,rs1925154,GWAS,26868259 CRISPLD2,rs1546124,Generation sequencing,25496823 CRISPLD2,rs1546124,PCR-DHPLC,21800413 CRISPLD2,rs1546124,Genotyping,20815724 CRISPLD2,rs2326398,Genotyping,20815724 CRISPLD2,rs8061351,Genotyping,20815724 CRISPLD2,rs1546124,single-marker and haplotype analyses,20662919 CRISPLD2,rs4783099,single-marker and haplotype analyses,20662919 CRISPLD2,rs16974880,single-marker and haplotype analyses,20662919 CRISPLD2,rs1546124,Linkage disequilibrium analysis,17616516 CRISPLD2,rs8061351,Linkage disequilibrium analysis,17616516 CRISPLD2,rs2326398,Linkage disequilibrium analysis,17616516 CRISPLD2,c.965C>G; p.T322S,WES and Sanger sequencing,26449438 CRISPLD2,rs1546124,Sequencing,25496823 CYP1A1,rs464621; c.3801T>C ,Genotyping,17160896 DHFR,19bp deletion,PCR,26221921 DHFR,rs1677693,TaqMan genotyping,24361572 DICER1,rs1243572A>G,GWAS,28232668 DICER1,rs1243573A>C,GWAS,28232668 DLX1,rs788173G>A,real time-PCR; TDT,25463899 DMD,rs5928207,Genotyping,23489894 DMD,rs5928208,Genotyping,23489894 DMD,rs6631759,Genotyping,23489894 DMD,rs5971698,Genotyping,23489894 DMD,rs5928214,Genotyping,23489894 DMD,rs5972815,Genotyping,23489894 DVL2,rs35594616; p.Gln554Gln ,PCR-RFLP,22887353 DVL2,rs222850*C,Genotyping,26602496 E2F1,rs2071054C>T,Genotyping,25045080 EFNB1,1A>G; 57G>A; 185T>C; 196C>T; 246delG; 293T>C; 344A>C; 355C>A; 356C>A; 406+1G>A; 407-1G>A; 451G>A; 452G>T; 463A>C; 472A>G; 474G>T; 629-2A>G,PCR,15166289 EFNB1,c.443_444delGG; p.N147fs*173,PCR and sequencing,15959873 EFNB1,c.258_261dupAGCT; p.A87fs*91,PCR and sequencing,15959873 EIF2B3,c.1130G>A; p.S377L,WES and Sanger sequencing,26449438 ESRRG,rs11117745,GWAS,29535761 ESRRG,rs1339221;,GWAS,29535761 EYA1,rs13260349C>T,Genotyping; TDT,23601008 FGF1,rs34010C>A,T-ARMS-PCR,24613087 FGF1,rs34010G>T (decrease risk),Genotyping,21462296 FGF2,rs11737764C>T,Genotyping ,21462296 FGF2,rs308434C>T,Genotyping ,21462296 FGF2,rs308441C>T,Genotyping ,21462296 FGF3,rs4980700,Genotyping,24697712 FGF10,rs10462065C>A,GWAS,28232668 FGF18,rs4043716,Genotyping; TDT,19727229 FGFR1,rs13317A>G,GWAS,28232668 FGFR1,c.1868A>G; p.Asp623Gly (heterozygous),Sanger sequencing,31512363 FGFR1,c.874C>G; p.His292Asp (heterozygous),Clinical exome sequencing and Sanger sequencing,32871658 FGFR1,c.358C>T; p.R120C (heterozygous),Next-Generation Sequencing; Sanger sequencing,26199944 FGFR1,c.776G>A; p.G259E (heterozygous),Next-Generation Sequencing; Sanger sequencing,26199944 FGFR1,rs7829058G>C,Genotyping,21462296 FGFR1,rs674354C>T,Genotyping,21462296 FGFR1,rs13317,Genotyping,17366557 FGFR2,g.123099960G>A,GWAS and Sanger sequencing,25704602 FGFR2,c.212T>C; p.M71T,WES and Sanger sequencing,26449438 FOXE1,rs1867277,high-resolution melting curve method or Sequenom MassARRAY method,29509083 FOXE1,rs894673A>T,GWAS and TDT,33165418 FOXE1,rs3758249T>C,GWAS and TDT,33165418 FOXE1,rs7860144G>A (decrease risk),Genotyping,21462296 FOXE1,rs874004C>G,Genotyping,21462296 FOXE1,rs973473G>T,Genotyping,21462296 FOXE1,rs10217225C>T (increase risk),meta analysis,31944555 FOXE1,rs4460498C>T (protective),meta analysis,31944555 FOXE1,rs7043516,Genotyping was performed with double ligation and multiplex fluorescence PCR,26728781 FOXE1,rs4460498,Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP),26100861 FOXE1,rs3758249,Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP),26100861 FOXE1,rs4460498,Genotyping,24563486 FOXE1,rs3758249,Genotyping,24563486 FOXE1,rs3758249,fine mapping strategy,19779022 FOXE1,rs4460498,fine mapping strategy,19779022 FOXE1,c.274G>T,PCR-RFLP,24252547 FOXE1,c.569C>G,PCR-RFLP,24252547 FOXE1,c.569C>T,PCR-RFLP,24252547 FOXE1,c.664C>T,PCR-RFLP,24252547 FOXE1,c.1090G>A,PCR-RFLP,24252547 FOXE1,c.572C>G,PCR-RFLP,24252547 FOXF2,rs1711968,Single Nucleotide Polymorphism Selection; DNA; and Genotyping; Allelic transmission disequilibrium test,26278207 FOXF2,rs732835,Single Nucleotide Polymorphism Selection; DNA; and Genotyping; Allelic transmission disequilibrium test,26278207 FZD6,rs138557689; c.-153+432A>C,Targeted sequencing; PCR;WES,26436110 FZD6,c.1A>G; p.Met1 (homozygous),WES and Sanger sequencing,32884998 GABRB3,c.89T>C; p.I300T (heterozygous),WES,31319422 GCH1,rs17128077,Single Nucleotide Polymorphism Selection and Genotyping,26215833 GLI2,c.2125del; p.Leu709Trpfs*15 (heterozygous),targeted NGS custom gene panel and Sanger sequencing,30583238 GLI2,c.2684C>T; p.Ala895Val; c.4350G>T; p.Gln1450His; and c.4622C>A; p.Ser1541Tyr (triple compound heterozygous),WES and Sanger sequencing,31386309 GREM1,rs16969681,Genotyping,26043427 GREM1,rs1258763,Genotyping,26043427 GREM1,rs16969816,Genotyping,26043427 GREM1,rs2280738,Sanger sequencing,32687624 GREM1,rs12915554 (Heterozygous; increase risk),PCR-RFLP or T-ARMS-PCR,31650875 GREM1,rs3743105 (Heterozygous and dominant; reduce risk),PCR-RFLP or T-ARMS-PCR,31650875 GREM1,rs1129456 (Heterozygous; positively associate risk),PCR-RFLP or T-ARMS-PCR,31650875 GREM1,rs10318 (Homozygous; dominant andrecessive; reduce risk),PCR-RFLP or T-ARMS-PCR,31650875 GREM1,c.4900C>T< p.Pro164Ser,Sanger sequencing,29489415 GREM1,c.182G>A; p.Gly61Asp,Sanger sequencing,29489415 GSTP1,I105V,TDT,18159215 HKDC1,rs201518882C>T; p.Arg768*,WES and Sanger sequencing,27229527 IRF6,rs1319435-C/C,PCR,25853057 IRF6,rs642961,PCR using Taqman assay method,25896037 IRF6,rs7545538,MiSeq Benchtop Sequencer (Illumina),25592222 IRF6,rs642961,Genewide tagging,25896061 IRF6,c.2T>C; ,PCR,23713753 IRF6,c.635delG; ,PCR,23713753 IRF6,c.627delC; ,PCR,23713753 IRF6,c.610C>T; ,PCR,23713753 IRF6,c.1234C>T,PCR,23713753 IRF6,c.21_23del(AGTCCGGCTAAAG); ,PCR,23713753 IRF6,rs642961,Linkage disequilibrium,22887868 IRF6,rs2235371,Genotyping,21039277 IRF6,rs642961,Genotyping,20799332 IRF6,rs642961,Genotyping,20121942 IRF6,rs2235371,PCR,19734457 IRF6,rs2235375,PCR,19734457 IRF6,rs1856161,Genotyping,19536891 IRF6,rs2235371,Genotyping,19536891 IRF6,rs2235377,Genotyping,19536891 IRF6,rs2073485; ,TDT,19388848 IRF6,rs599021,TDT,19388848 IRF6,rs4844880;,TDT,19388848 IRF6,rs4844880,Genotyping,18278815 IRF6,c.1259G>A; ,PCR-RFLP; sequencing,18506368 IRF6,c.396C>T,PCR-RFLP; sequencing,18506368 IRF6,c.123C>T; ,PCR-RFLP; sequencing,18506368 IRF6,rs861019,Sequencing,18209213 IRF6,rs7552506,Sequencing,18209213 IRF6,c.201C>A; p.Y67*,DNA Sequencing,17549393 IRF6,rs2235371,TDT,17438386 IRF6,rs2013162,TDT,17438386 IRF6,CC5.6GT,PCR; direct sequencing,16998136 IRF6,c.342T>A,PCR; direct sequencing,16998136 IRF6,c.566delA,PCR; direct sequencing,16998136 IRF6,c.748C>T,PCR; direct sequencing,16998136 IRF6,c.756C>A,PCR; direct sequencing,16998136 IRF6,c.989C>A,PCR; direct sequencing,16998136 IRF6,c.1209C>G,PCR; direct sequencing,16998136 IRF6,c.1316delT,PCR; direct sequencing,16998136 IRF6,c.250C>T,Direct sequencing,16160700 IRF6,c.353_354delAG,Direct sequencing,16160700 IRF6,c.358C>T,Direct sequencing,16160700 IRF6,c.749G>A,Direct sequencing,16160700 IRF6,c.1075C>T,Direct sequencing,16160700 IRF6,c.1198C>T,Direct sequencing,16160700 IRF6,c.1219delT,Direct sequencing,16160700 IRF6,c.1234C>T,Direct sequencing,16160700 IRF6,c.1271C>G,Direct sequencing,16160700 IRF6,c.100A>G,Direct sequencing,16160700 IRF6,rs2013162,Genotyping,16132054 IRF6,rs1319435,Genotyping,16096995 IRF6,rs2013162,Genotyping,16096995 IRF6,rs2235375,Genotyping,16096995 IRF6,rs2235543,Genotyping,16096995 IRF6,c.820G>A,PCR,15994871 IRF6,rs2235375,TDT,15558496 IRF6,rs2013162,TDT,15558496 IRF6,c.250C>T; p.R84C,Direct sequencing,15472655 IRF6,c.25C>T; p.R9W ,Direct sequencing,15472655 IRF6,p.V274I,TDT,15317890 IRF6,c.650G>A,LInkage analysis,15013698 IRF6,c.65T>C; ,Genotyping,14757865 IRF6,c.47C>T; ,Genotyping,14757865 IRF6,c.298A>G; ,Genotyping,14757865 IRF6,c.755T>C; ,Genotyping,14757865 IRF6,c.775C>T,Genotyping,14757865 IRF6,c.191T>C; ,Genotyping,14757865 IRF6,c.1186C>T; ,PCR,14618417 IRF6,c.17162del,PCR,14618417 IRF6,c.134G>A; ,PCR,14618417 IRF6,c.1461C>T; r.1461c>t; p.R400W,Direct sequencing,12920575 IRF6,c.1400G>A; r.1400g>a; p.W379X; ,Direct sequencing,12920575 IRF6,c.279C>T; r.279c>t; p.R6C; ,Direct sequencing,12920575 IRF6,c.268C>T; r.268c>t; p.A2V;,Direct sequencing,12920575 IRF6,c.74G>C,Genotyping,12964020 IRF6,c.399delC; ,Genotyping,12964020 IRF6,c.39G>A; p.Trp13*,Targeted sequencing,26346622 IRF6,c.250C>T; p.R84C,Targeted sequencing,26346622 IRF6,c.254G>T; p.Cys85Phe,Targeted sequencing,26346622 IRF6,c.1060+1G>T,Targeted sequencing,26346622 IRF6,c.165delC; p.Ile56Phefs*7,Targeted sequencing,26346622 IRF6,c.379delG; p.Gly127Valfs*43,Targeted sequencing,26346622 IRF6,c.1289_1297del; p.Asp430_Ile423del,Targeted sequencing,26346622 IRF6,rs861019; c.73A>G ,Direct sequencing; PCR,No PMID: Sup Ref #1 IRF6,rs2013162; c.459C>A; p.Ser153Ser ,Direct sequencing; PCR,No PMID: Sup Ref #1 IRF6,rs2235372; c.820G>A; p.V274I ,Direct sequencing; PCR,No PMID: Sup Ref #1 IRF6,rs2235371,PCR; LRT,17702008 IRF6,c.87_160delinsC; p.His30IlefsX9,PCR,18247422 IRF6,c.16dupC; p.Arg6ProfsX15,PCR,18247422 IRF6,rs2236908C>G; ,Genotyping,No PMID: Sup Ref #2 IRF6,rs2230907G>T; ,Genotyping,No PMID: Sup Ref #2 IRF6,rs2235373C>T; ,Genotyping,No PMID: Sup Ref #2 IRF6,rs2235375C>G,Genotyping,No PMID: Sup Ref #2 IRF6,rs2236909T>C; ,Genotyping,No PMID: Sup Ref #2 IRF6,rs642961G>A,Genotyping,21683068 IRF6,rs2235371G>A; p.Val274Ile,Genotyping,23169698 IRF6,rs2235371C>T,Genotyping,31609978 IRF6,rs2235377T>C,Genotyping,31609978 IRF6,rs12405750C>T,Genotyping,31609978 IRF6,rs10863790A>C,Genotyping,31609978 IRF6,rs72741048A>T,Genotyping,31609978 IRF6,rs189000G>A,Genotyping,31609978 IRF6,rs1387934C>T,Genotyping,31609978 IRF6,rs11119345A>G,GWAS; EMMAX; and TWAS,33137956 IRF6,rs861020A>G,Genotyping,20564431 IRF6,rs590223A>G,Genotyping,20572854 IRF6,rs2073485G>A,Genotyping,23921572 IRF6,rs2235371C>T,Genotyping,23921572 IRF6,rs2236909G>A,Genotyping,23921572 IRF6,rs861020G>A,Genotyping,23921572 IRF6,rs2235371G>A,Genotyping and TDT,26714022 IRF6,c.820G>A,PCR,19419265 IRF6,rs2235371; p.V274I ,TaqMan,23029012 IRF6,rs2235371C>T; p.V274I,PCR,23940636 IRF6,rs2013162C>A,PCR,23940636 IRF6,rs861020G>A,GWAS,28232668 IRF6,rs642961G>A,GWAS,28232668 IRF6,rs2064163C>A,GWAS,28232668 IRF6,rs9430019G>A,GWAS,28232668 IRF6,rs642961G>A,PCR-RFLP,20544801 IRF6,c.1088-1091delTCTA; p.Ile363Argfs*395 (heterozygous),WES and Sanger sequencing,32582293 IRF6,c.1198C>T; p.R400W (heterozygous),WES and Sanger sequencing,32945398 IRF6,g.209963979; c.921C>T; p.Ser307Ser,WES and Sanger sequencing,32784565 IRF6,rs2235371C>T,TaqMan allelic discrimination assay,31495697 IRF6,c.273A>T; p.Arg91Ser (heterozygous),PCR,30195270 IRF6,c.362G>T; p.Gly121Val (heterozygous),PCR,30195270 IRF6,c.443A>G; p.Asp148Gly; c.457T>C; p.Ser153Ala; c.490C>G; p.Pro164Ala (triple compound heterozygous),PCR,30195270 IRF6,c.514C>T; p.Pro172Ser (Heterozygous),PCR,30195270 IRF6,c.543C>T; p.Cys181Cys (heterozygous),PCR,30195270 IRF6,c.595G>A; p.Glu199Lys (heterozygous),PCR,30195270 IRF6,c.635G>A; p.Ser212Asn (homozygous),PCR,30195270 IRF6,c.1173G>T; p.Leu391Phe; c.1175T>G; p.Val392Gly (compound heterozygous),PCR,30195270 IRF6,c;26G>A; p.Arg9Gln (heterozygous), WES and Sanger sequencing,30053123 IRF6,rs630065T>C,Genotyping,21462296 IRF6,rs17389541A>G,Genotyping,21462296 IRF6,c.535G>A; p.V179I,WES and Sanger sequencing,26449438 IRF6,rs10863790,Genotyping and GWAS,20436469 IRF6,c.961C>T; p.Val321Met,WES,33136784 IRF6,rs11119345,Genotyping and GWAS,27033726 IRF6,rs56057644,Genotyping and GWAS,27033726 IRF6,rs1044516,Genotyping and GWAS,27033726 IRF6,rs20273485,GWAS,20436469 IRF6,rs2013162,GWAS,20436469 IRF6,rs861020,GWAS,20436469 IRF6,rs10863790,GWAS,20436469 IRF6,haplotype combination rs2064163-rs2235371 ,GWAS,3221112 IRF6,haplotype combination rs11119388-rs2235371,GWAS,3221112 IRF6,haplotype combination rs2064163-rs2235371,GWAS,3221112 JAG2,g.19712C>T,Genotyping and sequencing,26151095 JAG2,rs1057744,Genotyping,16641627 JAG2,rs741859C>T (protective),iMLDR genotyping,31922603 JAG2,rs11624283A>G,Genotyping,20572854 JAG2,rs2056860C>T,Genotyping,20572854 JAG2,rs1022431C>A,Genotyping,20572854 JAG2,rs11621316*G,Genotyping,26602496 JAG2,haplotype combination rs1057744A/rs909236G (protective),Genotyping and TDT,19049519 JAG2,haplotype combination rs1057744A/rs909236A (risk),Genotyping and TDT,19049519 JAG2,haplotype combination rs2238287G/rs105744A/rs909236G (protective),Genotyping and TDT,19049519 JARID2,rs2237138T>C,Genotyping -SNaPshot minisequencing technique.,25155265 JARID2,rs2072820T>C,Linkage disequilibrium study,20506229 JARID2,rs2237149C>A,Linkage disequilibrium study,20506229 JARID2,rs2299043G>A,Linkage disequilibrium study,20506229 JARID2,rs2237138T>C,Linkage disequilibrium study,20506229 JARID2,rs2076056C>G,Linkage disequilibrium study,20506229 JARID2,rs2282819G>A,Linkage disequilibrium study,20506229 KIF7,rs4932238*C,Genotyping,26602496 KISS1R, c.587C>A; p.P196H (heterozygous),NGS and Sanger sequencing,26199944 KRT18,rs3741442A>G,GWAS,28232668 LACTB,c.15C>T; p.M5I,WES and Sanger sequencing,26449438 LHX8,haplotype combination rs17565565C/rs6593568A,Genotyping,21462296 MAFB,rs6065259,Mini-sequencing,24972815 MAFB,rs13041247,Mini-sequencing,24972815 MAFB,rs13041247T>C,Genotyping and sequencing,21834038 MAFB,rs17820943C>T,GWAS,31609978 MAFB,rs6129653G>A,GWAS,28232668 MAFB,rs13041247,Genotyping and GWAS,20436469 MAFB,rs17820943C>T (reduce risk),Genotyping and GWAS,32646788 MAFB,rs6072081A>G (reduce risk),Genotyping and GWAS,32646788 MAFB,rs13041247T>C (reduce risk),Genotyping and GWAS,32646788 MAFB,rs13041247T>C (reduce risk),meta analysis,31387249 MAFB,c.493C>G; p.His165Asn,GWAS,25081408 MAFB,rs11696257,Genotyping,21567910 MAFB,rs13041247,Genotyping,21567910 MAFB,rs6016399,Genotyping and GWAS,27033726 MAFB,rs11698990,Genotyping and GWAS,27033726 MAFB, rs6102085,Genotyping and GWAS,27033726 MAFB,rs4810299,Genotyping and GWAS,27033726 MAFB,rs13041247,GWAS,20436469 MAFB,rs6072081,GWAS,20436469 MAFB,rs6065259,GWAS,20436469 MAFB,rs17820943,GWAS,20436469 MAFB,rs11696257,GWAS,20436469 MAFB,rs6102085,GWAS,20436469 MID1,c.1745insG,Direct sequencing; SSCP,9354791 MID1,c.1787ins24bp,Direct sequencing; SSCP,9354791 MID1,p.delM438; ,Direct sequencing; SSCP,9354791 MID1,c.434G>A; pCys145Tyr,PCR; sequencing,17221865 MID1,c.1793delC; p.His600fs,PCR; sequencing,17221865 MID1,ex1-9 deletion,PCR; sequencing,17221865 MID1,c.1285+1G>T,PCR; sequencing,17221865 MID1,c.397_401delACCTG; p.Thr133fs,PCR; sequencing,17221865 MID1,c.1832A>G; p.Asp611Gly,PCR; sequencing,17221865 MID1,c.819_829del11; p.Ile2273fs,PCR; sequencing,17221865 MID1,c.864+1G>T;,PCR; sequencing,17221865 MID1,c.388G>A; p.Ala130Ser,PCR; sequencing,17221865 MID1,c.1141+2T>C;,PCR; sequencing,17221865 MID1,c.1573C>T; p.Glu525*,PCR; sequencing,17221865 MID1,ex1 deletion,PCR; sequencing,17221865 MID1,c.712G>T; p.Glu238*,PCR; sequencing,17221865 MID1,c.1856_1858delATG; p.Met619del,PCR; sequencing,17221865 MID1,c.1957G>A; p.Gly653Arg,PCR; sequencing,17221865 MID1,c.1611_1612insTGAT; p.Ser538*,PCR; sequencing,17221865 MID1,c.1108A>G; p.Lys370Glu,PCR; sequencing,17221865 MID1,c.389A>T; p.Ala130Val,PCR; sequencing,17221865 MID1,c.561T>A; p.Cys187*,PCR; sequencing,17221865 MID1,c.1605_1606insGTTT; p.Ile536fs,PCR; sequencing,17221865 MID1,c.1594G>A; p.Gly532Arg,PCR; sequencing,17221865 MID1,c.1452_1455delACCA; p.Gln484fs,PCR; sequencing,17221865 MID1,c.430G>T; p.Glu144*,PCR; sequencing,17221865 MID1,c.425G>C; p.Gys142Ser,PCR; sequencing,17221865 MID1,c.1491-1533dup43; p.Ser511fs,PCR; sequencing,17221865 MID1,c.1663A>G; p.Ile555Val,PCR; sequencing,17221865 MID1,c.1286-1G>T,PCR; sequencing,31630581 MID1,haplotype combination rs2525073C/rs5934910G (protective) ,Genotyping and TDT,19049519 MID1,haplotype combination rs869917T/rs2525073C/rs5934910G (protective),Genotyping and TDT,19049519 MMP3,rs3025058; -1171 5A>6A,Sequencing; SSCP; PCR-RFLP,29738289 MMP3,-1171-5A allele,PCR,17537400 MMP9,rs17576A>G,Genotyping,21462296 MMP9,rs6094237A>T,Genotyping,21462296 MRPL53,rs6546909,Genotyping for eQTL analysis,29053389 MRPL53,rs1063588;,Genotyping for eQTL analysis,29053389 MRPL53,rs141704877,Sanger sequencing,29053389 MRPL53, rs78834087,Sanger sequencing,29053389 MRPL53,rs148007344,Sanger sequencing,29053389 MRPL53,rs139817903,Sanger sequencing,29053389 MRPL53,rs1047911,Sanger sequencing,29053389 MSX1,rs12532-AA,Sequence analysis,24603642 MSX1,rs11726039,PCR,25953455 MSX1,169 bp allele,PCR; TDT,23903689 MSX1,rs3821949,TDT; conditional logistic regression models,23580168 MSX1,c.799G>T,PCR; restriction enzyme digestion,21972896 MSX1,p.P147Q,PCR-RFLP,21689018 MSX1,c.68C>G; p.A34G,GWAS; direct sequencing,21740177 MSX1,rs12532-A,TDT,20635363 MSX1,c.1170G>A,Genotyping; sequencing; TDT,17326252 MSX1,c.101C>G; p.A34G,Genotyping,16868654 MSX1,c.799G>T;p.G267C,Genotyping,16868654 MSX1,c.832C>T; p.P278S,Genotyping,16868654 MSX1,c.440C>A; p.P147Q,Direct sequencing; TDT,15354328 MSX1,p.G98E,Direct sequencing; TDT,15354328 MSX1,c.101C>G; p.A34G,Genotyping; direct sequencing,21866112 MSX1,c.330C>T; p.G110G,Genotyping; direct sequencing,21866112 MSX1,c.440C>A; p.P147Q,Genotyping; direct sequencing,21866112 MSX1,c.109A>C; p.M37L,Genotyping; direct sequencing,21866112 MSX1,c.800G>C; p.G267A,Genotyping; direct sequencing,21866112 MSX1,c.768C>T; p.Gly110Gly (X1.3 ),Genotyping; sequencing; TDT,9683588 MSX1,rs34246903A>C,GWAS,28232668 MSX1,rs1907989G>A,GWAS,28232668 MSX1,rs6446693C>T,Genotyping,21462296 MSX1,rs868257C>G,Genotyping,21462296 MSX1,rs2034461G>A,Genotyping,21462296 MSX1,rs11726039T>C,Genotyping,20572854 MSX1,rs868257C>G,Genotyping,20572854 MSX1,rs6446693C>T,Genotyping,20572854 MSX1,rs1907998A>G,Genotyping,20572854 MSX1,rs6832405G>T,Genotyping,20572854 MSX1,rs34165410; c.348C>T; p.G111G,Sequencing; SSCP; PCR-RFLP,29738289 MSX1,rs3775261*A,Genotyping,26602496 MSX2,rs4868442*A,Genotyping,26602496 MTHFD1,1958 G>A,PCR-RFLP,18661527 MTHFD1,c.1958G>A,genotyping,25129243 MTHFR,rs1801131; c.1298A>C ,PCR�restriction fragment length polymorphism.,25219684 MTHFR,rs1801133; c.677C>T ,PCR�restriction fragment length polymorphism.,25219684 MTHFR,c.1298A>C ,PCR,26236436 MTHFR,c.677C>T ,PCR,26236436 MTHFR,c.1298A>C ,RFLP-PCR; ARMS_PCR,25745606 MTHFR,c.677C>T,RFLP-PCR; ARMS_PCR,25745606 MTHFR,c.1298A>C,RFLP-PCR; ,26110153 MTHFR,rs1801133A>C,TDT,25808365 MTHFR,rs1801133; c.677C>T,TaqMan SNP Genotyping Assay,26540672 MTHFR,c.677C>T,Genotyping,24460828 MTHFR,rs2274976G>A,Genotyping; TDT,24254627 MTHFR,c.677C>T,PCR; RFLP,23787444 MTHFR,c.677C>T,Genotyping; TDT,16470725 MTHFR,c.677C>T,PCR; TDT,15221800 MTHFR,c.677C>T,Transmission disequilibrium test,1159940 MTHFR,rs2274976G>A,PCR-RFLP,20890936 MTHFR,c.665C>T; p.A222V,WES and Sanger sequencing,26449438 MTHFR,rs1801133; c.677C>T (increase risk),meta analysis ,32124929 MTHFR,rs1801133; c.677C>T ,PCR-RFLP,27167580 MTHFR,c.677C>T,PCR-RFLP,18661527 MTHFR,c.677C>T,Genotyping,20082468 MTHFR,c.677C>T,PCR,19419265 MTHFR,rs1476413C>T; ,Genotyping,20572854 MTHFR,rs1801131T>G; c.1298A>C; ,Genotyping,20572854 MTHFR,rs1994798A>G; ,Genotyping,20572854 MTHFR,rs4846054T>C; ,Genotyping,20572854 MTHFR,rs2076001A>G,Genotyping,20572854 MTHFR,c.677C>T,Genotyping; TDT,15054400 MTR,c.2756A>G; p.Asp919Gly,PCR-RFLP,16712703 MTR,rs1805087; c.2756A>G ,PCR-RFLP,27167580 MTR,rs10925239 (protective),Global screening array,32492698 MTR,rs10925254 (protective),Global screening array,32492698 MTR,rs3768142 (protective),Global screening array,32492698 MTRR,rs1801394; c.66A>G ,PCR-RFLP,27167580 MTRR,rs1801394; c.66A>G (protective),meta analysis ,32124929 MTRR,rs1801394; c.66A>G,Genotyping,26963196 MYH9,rs2269529T>C,TDT,19891592 MYH9,rs16996652A>T,TDT,19891592 MYH9,rs7078,PCR; TDT,19320731 MYH9,rs1002246,Linkage analysis,18716610 MYH9,rs2269529T>C; c.4876A>G; p.I1626V,WES and Sanger sequencing,26449438 NAT1,c.1088T>A,Genotyping,15127906 NAT1,c.1095C>A,Genotyping,15127906 NAT1,rs4921580C>G,Genotyping,23660777 NAT2,rs1041983C>T,Genotyping,23660777 NAT2,rs1799930; c.590G>A ,Genotyping,17160896 NOG,rs227731C>A,Genotyping,25339627 NOG,rs227727,GWAS and Sanger sequencing,25704602 NOG,rs227731A>C,GWAS,28232668 NOG,rs227727; ,Genotyping and GWAS,27033726 NOG,rs78717626,Genotyping and GWAS,27033726 NOG,rs62074819,Genotyping and GWAS,27033726 NOG,rs7406226,Genotyping and GWAS,27033726 NTN1,rs4791774C>T (increase risk),GWAS,31780810 NTN1,rs11273201,Genotyping and GWAS,27033726 NTN1,rs7406226,Genotyping and GWAS,27033726 NTN1,rs1880646,Genotyping and GWAS,27033726 NTN1, rs1880646G>A,GWAS,28232668 NTN1,rs2872615A>G,GWAS,28232668 NTN1,haplotype combination rs9788972-rs9915089,GWAS,3221112 NTN1,haplotype combination rs4791774-rs9788972 ,GWAS,3221112 NTN1,rs11273201A>AACCCAAAACCCAC,GWAS; EMMAX; and TWAS,33137956 NTN1,rs4791774 A>G,GWAS and TDT,30506619 NTN1,rs9904526,GWAS and Sanger sequencing,25704602 PAH,rs7485331C>A,Genotyping,24606907 PAH,rs12425434T>C,Genotyping,24606907 PARVA,c.1095G>C; p.L365F,WES and Sanger sequencing,26449438 PAX7,c.1451G>A; p.R484H,WES and Sanger sequencing,26449438 PAX7,rs6659735, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.189614G>C; p.G411R, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.189617G>A; p.G412S, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.62366G>A; p.G466S, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.88401C>T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.18438C>A, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.957713C>T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.958083C>A, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.957933C>T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.72014C>A, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.72317G>A, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.189576C>T; p.P397L, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.958104G>A; p.A3T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.958140G>A; p.A15T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.958168G>A; p.G24E, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.961014T>C, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.961088G>T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.961515C>*, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.29895A>T, Genotyping; direct sequencing; and TDT,23463464 PAX7,c.62129A>C; p.M387L, Genotyping; direct sequencing; and TDT,23463464 PAX7,rs1339062; c.586+15617T>C,GWAS ,31173442 PAX7,c.87G>A; p.Val29Val,Direct seqencing,31173442 PAX7,rs2076020; c.744G>A; p.Glu248Glu,Direct seqencing,31173442 PAX7,rs2076019; c.771A>C; p.Thr257Thr,Direct seqencing,31173442 PAX7,rs2743201; c.879A>G; p.Pro293Pro,Direct seqencing,31173442 PAX7,rs138007970; c.1155+36G>T,Direct seqencing,31173442 PAX7,rs766325,Genotyping and TDT,19142206 PAX7,c.766C>T; p.Ala259Val,GWAS and Sanger sequencing,25704602 PAX7,c.1396G>A; p.Gly466Ser,GWAS,25081408 PAX7,c.1282G>A; p.Asp428Asn,GWAS,25081408 PAX7,c.952+2T>A,GWAS,25081408 PAX7,rs4920524;,Genotyping and GWAS,27033726 PAX7,rs9439714; ,Genotyping and GWAS,27033726 PAX7,rs12402156,Genotyping and GWAS,27033726 PAX7,rs6658147,Genotyping and GWAS,27033726 PAX9,rs17104928G>A,Genotyping; TDT,22976623 PAX9,rs730643A>G,GWAS,31609978 PAX9,rs2415363C>A,GWAS,31609978 PAX9,rs60708031G>T,GWAS,31609978 PAX9,rs17176643C>A,Genotyping,23921572 PAX9,rs12885612T>C,Sanger sequencing,32679372 PAX9,rs12881248G>A,Sanger sequencing,32679372 PAX9,c.640A>G ;p.S214G,Genotyping and TDT,16247549 PAX9,rs2073242,Genotyping,24697712 PAX9,rs1955734*T,Genotyping,26602496 PCYT1A,rs712012T>C,PCR-RFLP,20662904 PDGFC,c.93G>T; p.Q31H,WES and Sanger sequencing,26449438 PDGFC,rs17035464,Genotyping; TDT,23029525 PEMT,rs12325817C>G,PCR-RFLP,20662904 PHF8,c.836T>C; p.F279S,PCR,17661819 PHF8,c.529A>T; p.K177X,IPS; sequencing; PCR,17594395 PHYH,rs145404396G>C; p.Arg82Gly,WES and Sanger sequencing,27229527 PHYH,rs62619919C>T; p.Arg245Gln,WES and Sanger sequencing,27229527 PHYH,rs566116760A>AG/AT; p.Asn337_Leu338insHis ,WES and Sanger sequencing,27229527 PKP1,c.899A>C; p.N300T,WES and Sanger sequencing,26449438 PRSS1,c.542C>T; p.S181N,WES and Sanger sequencing,26449438 PRSS35,rs512140*A,Genotyping,26602496 PTCH1,rs10512248,HI-SNP ,30172247 PTCH1,c.1175C>T; p.Ala392Val (heterozygous),WES and Sanger sequencing,29908092 PTCH1,rs10512248A>C,GWAS,28232668 PTCH1,c.1111C>T; p.A371* (heterozygous),Sequencing,30962945 RAD51,rs1801321,Genotyping; TDT,26507587 RAD51,c.725A>G; p.Gln242Arg (heterozygous),trio-WES and Sanger sequencing,30907510 RAD54B,rs12681366-CT (protective),HI-SNP ,30172247 RAD54B,rs12681366A>G; ,GWAS,28232668 RAD54B,rs957448A>G,GWAS,28232668 RECQL5,c.1322C>T; p.R441Q,WES and Sanger sequencing,26449438 REG3A,c.149T>C; p.V509A,WES and Sanger sequencing,26449438 RFC1,c.80A>G,PCR-RFLP,29435434 RFC1,c.80A>G,meta analysis,32042737 RFC1,c.80A>G (incease risk),meta analysis,30579244 RFC1,80A>G,PCR-RFLP,24749799 RFC1,rs4818789A>C,Linkage analysis,24942095 RFC1,rs3788205A>G,Linkage analysis,24942095 RHPN2,rs73039426,WES and Sanger sequencing,29949196 RHPN2,rs73039428,Genotyping and GWAS,27033726 RPS26,rs705704G>A,GWAS,28232668 RUNX2,rs545289,Genotyping; TDT,22241686 RUNX2,rs2153277,Genotyping; TDT,22241686 RUNX2,rs1200426,Genotyping; TDT,22241686 RUNX2,rs1200425,Genotyping; TDT,22241686 RUNX2,rs9395112,Genotyping; TDT,22241686 RUNX2,rs2782660,Genotyping; TDT,22241686 RUNX2,rs1934328,Genotyping; TDT,18357615 RUNX2,rs910586,Genotyping; TDT,18357615 RUNX2,rs2819861,Genotyping; TDT,18357615 RUNX2,rs1934328,Genotyping; TDT,23909516 RYK,c.1355G>A; p.Y452C,Direct sequencing; TDT,16681403 SATB2,p.Arg239* and p.Asp702Thrfs*38 (compund heterozygous),Direct sequencing; TDT,30848049 SATB2,c.1285G>A; p.R429*,Direct sequencing; TDT,29739092 SATB2,rs994185,Genotyping,16641627 SEC16A,c.4484C>T; p.R1495Q,WES and Sanger sequencing,26449438 SMAD2,rs728683,Genome wide linkage analysis,17564975 SERPINA6,rs11627651,PCR-RFLP,22072571 SERPINA6,rs2228541,PCR-RFLP,22072571 SERPINA6,rs2281519,PCR-RFLP,22072571 SLC6A4,rs1042173,PCR-RFLP,22072571 SLC6A4,rs4583306,PCR-RFLP,22072571 SLC6A4,rs2020942,PCR-RFLP,22072571 SPRY1,rs908822G>A,GWAS,28232668 SUMO1,rs2350358G>C,PCR-RFLP,20544801 TAF1B,rs287980A>G,GWAS,28232668 TAF1B,rs287982A>G,GWAS,28232668 TANC2,rs1588366,Genotyping and GWAS,27033726 TBX22,c.376C>T; p.R126W ,Genotyping,21248356 TBX22,c.452G>T; p.R151L,Genotyping,21248356 TBX22,rs7055763G>A,Genotyping,25918826 TBX22,rs41307258T>A,Genotyping,25918826 TBX22,IVS6-1G>C (heterozygous or hemizygous),PCR and sequencing,29932961 TBX22,c.874G>A; p.D292N (hemizygous),PCR and sequencing,29932961 TCN2,rs1801198; c.667C>G (protective),Genotyping,31663440 TCN2,c.776C>G; p.Pro259Arg,Genotyping; TDT,16470748 TEX11,c.2541A>C; p.D847E,WES and Sanger sequencing,26449438 TFAP2A,rs303050A>G,PCR,21781438 TFAP2A,rs3798693C>T,PCR,21781438 TFAP2A,rs533558*G,Genotyping,21781438 TFAP2A,rs9381107G>A,GWAS,28232668 TGFA,rs11466297A> C,Genotyping;PCR-RFLP,26605011 TGFA,rs3771497T>G,Genotyping; TDT,24805869 TGFA,rs3821261T>G,Genotyping;TDT,19444471 TGFA,rs3771475A>G,Genotyping;TDT,19444471 TGFA,rs2902345,TaqMan,23029012 TGFA,rs3771494T>C,PCR,23940636 TGFA,rs3771523G>A; c.3822G>A,PCR,23940636 TGFA,rs11466285T>C; c.3851T>C,PCR,23940636 TGFA,rs7605323T>C,Genotyping,21462296 TGFB1,p.Arg25Pro,PCR; sequencing,26954016 TGFB1,p.Pro10Leu,PCR; sequencing,26954016 TGFB3,IVS5+104A>G,PCR-RFLP,23023602 TGFB3,rs3917201G>A,PCR-RFLP; TDT,20170386 TGFB3,rs2300607A>T; IVS1+5321,PCR-RFLP; TDT,18480962 TGFB3,IVS5+104A>G,Genotyping,14659070 TGFB3,g.-1083_-1086AGAGGG repeat (5'UTR.1),Genotyping; sequencing; TDT,23660777 TGFB3,g.-24 int4/ex5 T>C (X5.1); ,Genotyping; sequencing; TDT,23660777 TGFB3,rs2205181T>C,Genotyping,20572854 TGFB3,rs8011635C>T,Genotyping,20572854 TIMP2,rs7502916A>C,Genotyping,21462296 TIMP2,rs4789936C>T,Genotyping,21462296 TIMP2,rs6501266C>T,Genotyping,21462296 TIMP2,rs7211674A>C,Genotyping,21462296 TIMP2,rs7212662T>G,Genotyping,21462296 TMEM19,rs2304269A>G,GWAS,28232668 TMEM19,rs7967428A>G,GWAS,28232668 TOX3,rs1420533,GWAS,26868259 TP63,c.1542A>T; p.L518F,PCR; direct sequencing,11159940 TP63,c.1589G>T; p.G534V,PCR; direct sequencing,11159940 TP63,c.1564T>G; p.G526G,PCR; direct sequencing,11159940 TP63,c.1607A>T; p.Q540L,PCR; direct sequencing,11159940 TP63,c.1610T>C; p.I541T,PCR; direct sequencing,11159940 TP63,c.1540T>G; p.L518V,PCR; direct sequencing,11159940 TP63,c.1597A>C; p.T537P,PCR; direct sequencing,11159940 TP63,c.1566T>G; p.C526W,PCR; direct sequencing,11159940 TP63,c.819_820dupCC; p.Gln274fs*4,WES,29500247 TP63,c.1798G>C; p.Gly600Arg (heterozygous),sequencing,32953416 TP63,c.1769C>T; p.P590L (heterozygous),WES and Sanger sequencing,31050217 TP63,p.R304W (heterozygous),WES and Sanger sequencing,30025988 TP63,rs7653848,Sanger sequencing,32687624 TP63,rs7624324,Sanger sequencing,32687624 TP63,rs6790167,Sanger sequencing,32687624 TP63,rs1345186,Sanger sequencing,32687624 TP63,rs9332461A>G,TaqMan genotyping assay,31825181 TP63,c.1324C>T; p.Q442* (heterozygous),WES and Sanger sequencing,33622322 TPH2,rs10879357,PCR-RFLP,22072571 TPM1,rs1972041G>A,Genotyping,26792422 TPM1,rs11071720 (Homozygous and recessive; increase risk),PCR,30888054 TPM1,rs12148828 (codominant; protective),PCR,30888054 TPM1,rs3803499 (recessive and codominant; increase risk),PCR,30888054 TULP4,rs651333,PCR; sequencing,24066709 TYMS,rs45445694; 28bp VNTR ,Genotyping,23404871 VAX1,c.453_454delinsAA; p.Arg152Ser,PCR; sequencing,22095910 VAX1,c.945C>T; p.Ala315Ala,PCR; sequencing,22095910 VAX1,rs4752028, Genotyping; direct sequencing; and TDT,23463464 VAX1,rs7078160 , Genotyping; direct sequencing; and TDT,23463464 VAX1,rs14874160G>T, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.898982>C, Genotyping; direct sequencing; and TDT,23463464 VAX1,rs148741605C>T, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.840949G>A, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.840439C>A, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.897839C>T, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.896171G>T, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.896062T>G; p.M117R, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.893947C>T, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.893882G>T, Genotyping; direct sequencing; and TDT,23463464 VAX1,c.893824G>T; p.A233S, Genotyping; direct sequencing; and TDT,23463464 VAX1,rs7902527G>A,GWAS,31609978 VAX1,rs4752028T>C,GWAS,31609978 VAX1,rs4752028C>T,realtime-PCR,30633559 VAX1,rs7078160G>A (increasing risk),realtime-PCR,30633559 VAX1,rs6585429A>G,GWAS,28232668 VAX1,rs7078160G>A (increasing risk),SNPscan method and TDT,30048854 VAX1,rs7078160G>A (increasing risk),PCR and Sanger sequencing,33132092 VAX1,rs7086344*T,Genotyping,26602496 VAX1,rs10886040,Genotyping and GWAS,27033726 VAX1,rs201128098,Genotyping and GWAS,27033726 VAX1,rs7072663,Genotyping and GWAS,27033726 VAX1,rs113339720,Genotyping and GWAS,27033726 VWA8,rs370112959G>A; p.Arg1520*,WES and Sanger sequencing,27229527 VWA8,p.Thr817,WES and Sanger sequencing,27229527 VWA8,rs138075452C>T; p.Atg668Gln,WES and Sanger sequencing,27229527 VWA8,rs73464952T>C; p.Val1564Met,WES and Sanger sequencing,27229527 WNT3,rs3809857G>T,PCR-RFLP,26505415 WNT3,rs9890413A>G,PCR-RFLP,26505415 WNT3,rs3809857G>T,PCR-RFLP,22288914 WNT3,rs3809857G>T (protective),PCR-RFLP,30090211 WNT3A,rs1745420,Genotyping; PDT; and APL,18413325 WNT5A,rs566926,Genotyping; PDT; and APL,18413325 WNT9B,rs1530364A>G,PCR; sequencing,24437584 WNT9B,rs4968282A>G (decrease risk),Genotyping,21462296 WNT9B,rs1105127G>C,Genotyping,21462296 WNT9B,rs1530364C>T,PCR and sequencing,33110311 WNT9B,rs4968247G>A,GWAS,28232668 WNT9B,rs1838105G>A,GWAS,28232668 WNT10A,392C>T,PCR-RFLP,24957471 WNT10A,rs147680216G>A; p.Gly213Ser,PCR-RFLP,31155400 WNT11,rs66374,Genotyping; PDT; and APL,18413325 WNT11,rs7936750*G,Genotyping,26602496 YOD1,c.54G>T; p.F18L,WES and Sanger sequencing,26449438