rs2071214

Homo sapiens
G>A
BIRC5 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0064 (7775/121360,ExAC)
G==0049 (1495/29988,GnomAD)
G==0031 (927/29118,TOPMED)
A=0034 (444/13006,GO-ESP)
G==0071 (355/5008,1000G)
G==0057 (221/3854,ALSPAC)
G==0061 (226/3708,TWINSUK)
chr17:78223510 (GRCh38.p7) (17q25.3)
AD
GWASCatalog | GWASdb2
6   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.78223510G>A
GRCh37.p13 chr 17NC_000017.10:g.76219591G>A
BIRC5 RefSeqGeneNG_029069.1:g.14315G>A

Gene: BIRC5, baculoviral IAP repeat containing 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BIRC5 transcript variant 1NM_001168.2:c.385G>AE [GAG]> K [AAG]Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 1NP_001159.2:p.Glu...NP_001159.2:p.Glu129LysE [Glu]> K [Lys]Missense Variant
BIRC5 transcript variant 2NM_001012270.1:c....NM_001012270.1:c.267G>AR [CGG]> R [CGA]Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 2NP_001012270.1:p....NP_001012270.1:p.Arg89=R [Arg]> R [Arg]Synonymous Variant
BIRC5 transcript variant 3NM_001012271.1:c....NM_001012271.1:c.454G>AE [GAG]> K [AAG]Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 3NP_001012271.1:p....NP_001012271.1:p.Glu152LysE [Glu]> K [Lys]Missense Variant
BIRC5 transcript variant X1XR_934452.2:n.656G>AG>ANon Coding Transcript Variant
BIRC5 transcript variant X2XR_243654.4:n.587G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.002A=0.998
1000GenomesAmericanSub694G=0.060A=0.940
1000GenomesEast AsianSub1008G=0.227A=0.773
1000GenomesEuropeSub1006G=0.047A=0.953
1000GenomesGlobalStudy-wide5008G=0.071A=0.929
1000GenomesSouth AsianSub978G=0.040A=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.057A=0.943
The Exome Aggregation ConsortiumAmericanSub21982G=0.048A=0.951
The Exome Aggregation ConsortiumAsianSub25140G=0.105A=0.894
The Exome Aggregation ConsortiumEuropeSub73332G=0.054A=0.945
The Exome Aggregation ConsortiumGlobalStudy-wide121360G=0.064A=0.935
The Exome Aggregation ConsortiumOtherSub906G=0.070A=0.930
The Genome Aggregation DatabaseAfricanSub8732G=0.010A=0.990
The Genome Aggregation DatabaseAmericanSub838G=0.070A=0.930
The Genome Aggregation DatabaseEast AsianSub1616G=0.212A=0.788
The Genome Aggregation DatabaseEuropeSub18500G=0.053A=0.946
The Genome Aggregation DatabaseGlobalStudy-wide29988G=0.049A=0.950
The Genome Aggregation DatabaseOtherSub302G=0.050A=0.950
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.031A=0.968
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.061A=0.939
PMID Title Author Journal
27446775Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population.Chon JAnn Rehabil Med
25586992Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.Kabisch MCarcinogenesis
27423588Association between missense SNP rs2071214 of BIRC5 gene and intracerebral hemorrhage in Korean population.Park HJJ Neurol Sci
27417569Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases.Bek SAliment Pharmacol Ther
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs20712148.00E-06alcohol dependence23942779
rs20712140.000177alcohol dependence21314694

eQTL of rs2071214 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2071214 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr177616994176170056E067-49535
chr177617010776172170E067-47421
chr177617222176173217E067-46374
chr177617616976176615E067-42976
chr177618681576186870E067-32721
chr177618698276187091E067-32500
chr177618715576187209E067-32382
chr177618734376187393E067-32198
chr177618742176187487E067-32104
chr177618866276189084E067-30507
chr177619285476192898E067-26693
chr177619298576193039E067-26552
chr177619320176193293E067-26298
chr177619330676193563E067-26028
chr177619362276193750E067-25841
chr177619387276193967E067-25624
chr177621558976216209E067-3382
chr177621929176219628E0670
chr177621968476219737E06793
chr177622002076220080E067429
chr177622022176220302E067630
chr177622034476220761E067753
chr177622080276221014E0671211
chr177622119176221264E0671600
chr177622145676221585E0671865
chr177622225776222609E0672666
chr177622267376223428E0673082
chr177622345376223582E0673862
chr177622366476223904E0674073
chr177622416776224221E0674576
chr177622648476226682E0676893
chr177622967476229730E06710083
chr177622989376230010E06710302
chr177623007776230127E06710486
chr177623012976230179E06710538
chr177623027076230354E06710679
chr177623039076230440E06710799
chr177623046676230526E06710875
chr177623072576230801E06711134
chr177623091776231006E06711326
chr177623283476233026E06713243
chr177623303576233116E06713444
chr177623323676233286E06713645
chr177623334876233836E06713757
chr177623386876233926E06714277
chr177623398176234053E06714390
chr177623407976234178E06714488
chr177623421776234375E06714626
chr177623440376234496E06714812
chr177623454976234613E06714958
chr177623466676234823E06715075
chr177623506776235319E06715476
chr177623545276235516E06715861
chr177623557776235739E06715986
chr177623618676236271E06716595
chr177623628476236338E06716693
chr177623736476237517E06717773
chr177623753676237995E06717945
chr177623800076238081E06718409
chr177623809776238400E06718506
chr177623842076239104E06718829
chr177623946076239500E06719869
chr177624579176246093E06726200
chr177624612476249564E06726533
chr177624956976249658E06729978
chr177617010776172170E068-47421
chr177617222176173217E068-46374
chr177619285476192898E068-26693
chr177619298576193039E068-26552
chr177619320176193293E068-26298
chr177619330676193563E068-26028
chr177619362276193750E068-25841
chr177621929176219628E0680
chr177622002076220080E068429
chr177622022176220302E068630
chr177622034476220761E068753
chr177622080276221014E0681211
chr177622119176221264E0681600
chr177622145676221585E0681865
chr177622267376223428E0683082
chr177622345376223582E0683862
chr177622366476223904E0684073
chr177622416776224221E0684576
chr177622461776225007E0685026
chr177622943576229485E0689844
chr177622967476229730E06810083
chr177622989376230010E06810302
chr177623007776230127E06810486
chr177623012976230179E06810538
chr177623027076230354E06810679
chr177623039076230440E06810799
chr177623046676230526E06810875
chr177623072576230801E06811134
chr177623091776231006E06811326
chr177623216376232219E06812572
chr177623231776232406E06812726
chr177623248576232650E06812894
chr177623267176232807E06813080
chr177623283476233026E06813243
chr177623303576233116E06813444
chr177623323676233286E06813645
chr177623334876233836E06813757
chr177623386876233926E06814277
chr177623398176234053E06814390
chr177623407976234178E06814488
chr177623421776234375E06814626
chr177623440376234496E06814812
chr177623454976234613E06814958
chr177623466676234823E06815075
chr177623506776235319E06815476
chr177623545276235516E06815861
chr177623557776235739E06815986
chr177623595676235996E06816365
chr177623614076236184E06816549
chr177623618676236271E06816595
chr177623628476236338E06816693
chr177623647176236603E06816880
chr177623673076236800E06817139
chr177623703376237257E06817442
chr177623736476237517E06817773
chr177623753676237995E06817945
chr177623800076238081E06818409
chr177623809776238400E06818506
chr177623842076239104E06818829
chr177624579176246093E06826200
chr177616994176170056E069-49535
chr177617010776172170E069-47421
chr177617222176173217E069-46374
chr177617670976176821E069-42770
chr177618681576186870E069-32721
chr177618698276187091E069-32500
chr177618715576187209E069-32382
chr177618734376187393E069-32198
chr177618742176187487E069-32104
chr177619233776192391E069-27200
chr177619285476192898E069-26693
chr177619298576193039E069-26552
chr177619320176193293E069-26298
chr177619330676193563E069-26028
chr177619362276193750E069-25841
chr177620406276204184E069-15407
chr177620475776204813E069-14778
chr177622002076220080E069429
chr177622022176220302E069630
chr177622034476220761E069753
chr177622080276221014E0691211
chr177622119176221264E0691600
chr177622145676221585E0691865
chr177622225776222609E0692666
chr177622267376223428E0693082
chr177622345376223582E0693862
chr177622366476223904E0694073
chr177622416776224221E0694576
chr177622461776225007E0695026
chr177622943576229485E0699844
chr177622967476229730E06910083
chr177622989376230010E06910302
chr177623007776230127E06910486
chr177623012976230179E06910538
chr177623027076230354E06910679
chr177623039076230440E06910799
chr177623046676230526E06910875
chr177623072576230801E06911134
chr177623091776231006E06911326
chr177623102276231066E06911431
chr177623119276231454E06911601
chr177623193376232001E06912342
chr177623216376232219E06912572
chr177623231776232406E06912726
chr177623248576232650E06912894
chr177623267176232807E06913080
chr177623283476233026E06913243
chr177623303576233116E06913444
chr177623323676233286E06913645
chr177623334876233836E06913757
chr177623386876233926E06914277
chr177623398176234053E06914390
chr177623407976234178E06914488
chr177623421776234375E06914626
chr177623440376234496E06914812
chr177623454976234613E06914958
chr177623466676234823E06915075
chr177623506776235319E06915476
chr177623545276235516E06915861
chr177623557776235739E06915986
chr177623595676235996E06916365
chr177623614076236184E06916549
chr177623618676236271E06916595
chr177623628476236338E06916693
chr177623647176236603E06916880
chr177623673076236800E06917139
chr177623703376237257E06917442
chr177623736476237517E06917773
chr177623753676237995E06917945
chr177623800076238081E06918409
chr177623809776238400E06918506
chr177623842076239104E06918829
chr177624456476244715E06924973
chr177624471676244827E06925125
chr177624536976245460E06925778
chr177624555576245600E06925964
chr177624565176245703E06926060
chr177624579176246093E06926200
chr177624612476249564E06926533
chr177624956976249658E06929978
chr177618040776181251E070-38340
chr177623323676233286E07013645
chr177623334876233836E07013757
chr177623386876233926E07014277
chr177623398176234053E07014390
chr177623407976234178E07014488
chr177623421776234375E07014626
chr177623440376234496E07014812
chr177623454976234613E07014958
chr177626424676264433E07044655
chr177626446976264703E07044878
chr177626479876264858E07045207
chr177616994176170056E071-49535
chr177617010776172170E071-47421
chr177617222176173217E071-46374
chr177618040776181251E071-38340
chr177618681576186870E071-32721
chr177619015476190212E071-29379
chr177619057776190696E071-28895
chr177619233776192391E071-27200
chr177619298576193039E071-26552
chr177619320176193293E071-26298
chr177619330676193563E071-26028
chr177619362276193750E071-25841
chr177619387276193967E071-25624
chr177621558976216209E071-3382
chr177621929176219628E0710
chr177621968476219737E07193
chr177622002076220080E071429
chr177622022176220302E071630
chr177622034476220761E071753
chr177622080276221014E0711211
chr177622119176221264E0711600
chr177622145676221585E0711865
chr177622165976221703E0712068
chr177622225776222609E0712666
chr177622267376223428E0713082
chr177622345376223582E0713862
chr177622366476223904E0714073
chr177622416776224221E0714576
chr177622461776225007E0715026
chr177622943576229485E0719844
chr177622967476229730E07110083
chr177622989376230010E07110302
chr177623007776230127E07110486
chr177623012976230179E07110538
chr177623027076230354E07110679
chr177623039076230440E07110799
chr177623046676230526E07110875
chr177623072576230801E07111134
chr177623091776231006E07111326
chr177623102276231066E07111431
chr177623119276231454E07111601
chr177623193376232001E07112342
chr177623216376232219E07112572
chr177623231776232406E07112726
chr177623248576232650E07112894
chr177623267176232807E07113080
chr177623283476233026E07113243
chr177623303576233116E07113444
chr177623323676233286E07113645
chr177623334876233836E07113757
chr177623386876233926E07114277
chr177623398176234053E07114390
chr177623407976234178E07114488
chr177623421776234375E07114626
chr177623440376234496E07114812
chr177623454976234613E07114958
chr177623466676234823E07115075
chr177623506776235319E07115476
chr177623545276235516E07115861
chr177623557776235739E07115986
chr177623595676235996E07116365
chr177623614076236184E07116549
chr177623618676236271E07116595
chr177623628476236338E07116693
chr177623647176236603E07116880
chr177623673076236800E07117139
chr177623703376237257E07117442
chr177623736476237517E07117773
chr177623753676237995E07117945
chr177623800076238081E07118409
chr177623809776238400E07118506
chr177623842076239104E07118829
chr177624456476244715E07124973
chr177624471676244827E07125125
chr177624486376245093E07125272
chr177624536976245460E07125778
chr177624555576245600E07125964
chr177624565176245703E07126060
chr177624579176246093E07126200
chr177624612476249564E07126533
chr177624956976249658E07129978
chr177625372076255392E07134129
chr177616994176170056E072-49535
chr177617010776172170E072-47421
chr177617222176173217E072-46374
chr177618518576185281E072-34310
chr177618565376185697E072-33894
chr177618698276187091E072-32500
chr177618715576187209E072-32382
chr177618734376187393E072-32198
chr177618742176187487E072-32104
chr177619015476190212E072-29379
chr177619057776190696E072-28895
chr177619233776192391E072-27200
chr177619285476192898E072-26693
chr177619298576193039E072-26552
chr177619320176193293E072-26298
chr177619330676193563E072-26028
chr177619651076196800E072-22791
chr177621558976216209E072-3382
chr177621929176219628E0720
chr177621968476219737E07293
chr177622002076220080E072429
chr177622022176220302E072630
chr177622080276221014E0721211
chr177622119176221264E0721600
chr177622145676221585E0721865
chr177622267376223428E0723082
chr177622345376223582E0723862
chr177622366476223904E0724073
chr177622416776224221E0724576
chr177622461776225007E0725026
chr177622943576229485E0729844
chr177622967476229730E07210083
chr177622989376230010E07210302
chr177623007776230127E07210486
chr177623012976230179E07210538
chr177623027076230354E07210679
chr177623039076230440E07210799
chr177623046676230526E07210875
chr177623072576230801E07211134
chr177623091776231006E07211326
chr177623102276231066E07211431
chr177623119276231454E07211601
chr177623193376232001E07212342
chr177623216376232219E07212572
chr177623231776232406E07212726
chr177623248576232650E07212894
chr177623267176232807E07213080
chr177623283476233026E07213243
chr177623303576233116E07213444
chr177623323676233286E07213645
chr177623334876233836E07213757
chr177623386876233926E07214277
chr177623440376234496E07214812
chr177623454976234613E07214958
chr177623466676234823E07215075
chr177623506776235319E07215476
chr177623545276235516E07215861
chr177623557776235739E07215986
chr177623595676235996E07216365
chr177623614076236184E07216549
chr177623618676236271E07216595
chr177623628476236338E07216693
chr177623647176236603E07216880
chr177623673076236800E07217139
chr177623703376237257E07217442
chr177623736476237517E07217773
chr177623753676237995E07217945
chr177623800076238081E07218409
chr177623809776238400E07218506
chr177623842076239104E07218829
chr177624612476249564E07226533
chr177624956976249658E07229978
chr177616994176170056E073-49535
chr177617010776172170E073-47421
chr177617222176173217E073-46374
chr177619233776192391E073-27200
chr177619285476192898E073-26693
chr177619298576193039E073-26552
chr177619320176193293E073-26298
chr177619330676193563E073-26028
chr177621895676219006E073-585
chr177621915476219194E073-397
chr177621929176219628E0730
chr177621968476219737E07393
chr177622002076220080E073429
chr177622080276221014E0731211
chr177622119176221264E0731600
chr177622145676221585E0731865
chr177622267376223428E0733082
chr177622345376223582E0733862
chr177622366476223904E0734073
chr177623027076230354E07310679
chr177623039076230440E07310799
chr177623046676230526E07310875
chr177623072576230801E07311134
chr177623091776231006E07311326
chr177623102276231066E07311431
chr177623323676233286E07313645
chr177623334876233836E07313757
chr177623386876233926E07314277
chr177623398176234053E07314390
chr177623407976234178E07314488
chr177623421776234375E07314626
chr177623440376234496E07314812
chr177623454976234613E07314958
chr177623466676234823E07315075
chr177623506776235319E07315476
chr177623545276235516E07315861
chr177623557776235739E07315986
chr177623595676235996E07316365
chr177623614076236184E07316549
chr177623618676236271E07316595
chr177623628476236338E07316693
chr177623647176236603E07316880
chr177623809776238400E07318506
chr177623842076239104E07318829
chr177623946076239500E07319869
chr177624956976249658E07329978
chr177616994176170056E074-49535
chr177617010776172170E074-47421
chr177617222176173217E074-46374
chr177618143676181583E074-38008
chr177618167776181735E074-37856
chr177618518576185281E074-34310
chr177618565376185697E074-33894
chr177618715576187209E074-32382
chr177618734376187393E074-32198
chr177618742176187487E074-32104
chr177618866276189084E074-30507
chr177619210676192158E074-27433
chr177619233776192391E074-27200
chr177619285476192898E074-26693
chr177619298576193039E074-26552
chr177619320176193293E074-26298
chr177619330676193563E074-26028
chr177619362276193750E074-25841
chr177619387276193967E074-25624
chr177619435776194401E074-25190
chr177621558976216209E074-3382
chr177621929176219628E0740
chr177621968476219737E07493
chr177622002076220080E074429
chr177622022176220302E074630
chr177622034476220761E074753
chr177622080276221014E0741211
chr177622119176221264E0741600
chr177622145676221585E0741865
chr177622165976221703E0742068
chr177622225776222609E0742666
chr177622267376223428E0743082
chr177622345376223582E0743862
chr177622366476223904E0744073
chr177622416776224221E0744576
chr177622461776225007E0745026
chr177622943576229485E0749844
chr177622967476229730E07410083
chr177622989376230010E07410302
chr177623007776230127E07410486
chr177623012976230179E07410538
chr177623027076230354E07410679
chr177623039076230440E07410799
chr177623046676230526E07410875
chr177623072576230801E07411134
chr177623091776231006E07411326
chr177623102276231066E07411431
chr177623119276231454E07411601
chr177623193376232001E07412342
chr177623216376232219E07412572
chr177623231776232406E07412726
chr177623248576232650E07412894
chr177623267176232807E07413080
chr177623283476233026E07413243
chr177623303576233116E07413444
chr177623323676233286E07413645
chr177623334876233836E07413757
chr177623386876233926E07414277
chr177623440376234496E07414812
chr177623454976234613E07414958
chr177623466676234823E07415075
chr177623545276235516E07415861
chr177623557776235739E07415986
chr177623595676235996E07416365
chr177623614076236184E07416549
chr177623618676236271E07416595
chr177623628476236338E07416693
chr177623647176236603E07416880
chr177623673076236800E07417139
chr177623703376237257E07417442
chr177623736476237517E07417773
chr177623753676237995E07417945
chr177623800076238081E07418409
chr177623809776238400E07418506
chr177623842076239104E07418829
chr177624536976245460E07425778
chr177624555576245600E07425964
chr177624565176245703E07426060
chr177624579176246093E07426200
chr177617222176173217E081-46374
chr177621968476219737E08193
chr177622002076220080E081429
chr177622022176220302E081630
chr177622034476220761E081753
chr177622080276221014E0811211
chr177622119176221264E0811600
chr177622145676221585E0811865
chr177622165976221703E0812068
chr177622461776225007E0815026
chr177623039076230440E08110799
chr177623046676230526E08110875
chr177623072576230801E08111134
chr177623386876233926E08114277
chr177623398176234053E08114390
chr177623407976234178E08114488
chr177623421776234375E08114626
chr177623440376234496E08114812
chr177623454976234613E08114958
chr177623466676234823E08115075
chr177624956976249658E08129978
chr177626493776267145E08145346
chr177617010776172170E082-47421
chr177617222176173217E082-46374
chr177618681576186870E082-32721
chr177623046676230526E08210875
chr177623267176232807E08213080
chr177623283476233026E08213243
chr177623303576233116E08213444
chr177623323676233286E08213645
chr177623334876233836E08213757
chr177623386876233926E08214277
chr177623398176234053E08214390
chr177626493776267145E08245346










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177618231276183834E067-35757
chr177618398076184532E067-35059
chr177621000176210934E067-8657
chr177622768076228075E0678089
chr177622812376228772E0678532
chr177624994976250971E06730358
chr177618231276183834E068-35757
chr177618398076184532E068-35059
chr177621000176210934E068-8657
chr177622768076228075E0688089
chr177622812376228772E0688532
chr177624994976250971E06830358
chr177618231276183834E069-35757
chr177618398076184532E069-35059
chr177621000176210934E069-8657
chr177622768076228075E0698089
chr177622812376228772E0698532
chr177624994976250971E06930358
chr177618231276183834E070-35757
chr177621000176210934E070-8657
chr177621113876211212E070-8379
chr177624994976250971E07030358
chr177618231276183834E071-35757
chr177618398076184532E071-35059
chr177622768076228075E0718089
chr177622812376228772E0718532
chr177624994976250971E07130358
chr177618231276183834E072-35757
chr177618398076184532E072-35059
chr177621000176210934E072-8657
chr177622768076228075E0728089
chr177622812376228772E0728532
chr177624994976250971E07230358
chr177618231276183834E073-35757
chr177618398076184532E073-35059
chr177622768076228075E0738089
chr177622812376228772E0738532
chr177624994976250971E07330358
chr177618231276183834E074-35757
chr177618398076184532E074-35059
chr177621000176210934E074-8657
chr177622768076228075E0748089
chr177622812376228772E0748532
chr177624994976250971E07430358
chr177618231276183834E082-35757
chr177618398076184532E082-35059
chr177621000176210934E082-8657
chr177621113876211212E082-8379
chr177622768076228075E0828089
chr177624994976250971E08230358