rs7212295

Homo sapiens
A>G
MYO18A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0391 (11715/29920,GnomAD)
A==0342 (9982/29118,TOPMED)
A==0283 (1416/5008,1000G)
G=0492 (1895/3854,ALSPAC)
G=0498 (1847/3708,TWINSUK)
chr17:29104407 (GRCh38.p7) (17q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.29104407A>G
GRCh37.p13 chr 17NC_000017.10:g.27431425A>G

Gene: MYO18A, myosin XVIIIA(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MYO18A transcript variant 1NM_078471.3:c.N/AIntron Variant
MYO18A transcript variant 2NM_203318.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.137G=0.863
1000GenomesAmericanSub694A=0.500G=0.500
1000GenomesEast AsianSub1008A=0.087G=0.913
1000GenomesEuropeSub1006A=0.484G=0.516
1000GenomesGlobalStudy-wide5008A=0.283G=0.717
1000GenomesSouth AsianSub978A=0.320G=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.508G=0.492
The Genome Aggregation DatabaseAfricanSub8706A=0.175G=0.825
The Genome Aggregation DatabaseAmericanSub836A=0.540G=0.460
The Genome Aggregation DatabaseEast AsianSub1622A=0.114G=0.886
The Genome Aggregation DatabaseEuropeSub18456A=0.510G=0.489
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.391G=0.608
The Genome Aggregation DatabaseOtherSub300A=0.430G=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.342G=0.657
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.502G=0.498
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs72122959.42E-06alcohol dependence23089632

eQTL of rs7212295 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:27431425TIAF1ENSG00000221995.4A>G2.6252e-1725550Cerebellum
Chr17:27431425TIAF1ENSG00000221995.4A>G4.0780e-1225550Cerebellar_Hemisphere

meQTL of rs7212295 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 )
chr172738714227387428E067-43997
chr172738751227387798E067-43627
chr172738803627388464E067-42961
chr172738852527388700E067-42725
chr172739299427393558E067-37867
chr172739366027393927E067-37498
chr172739662127396998E067-34427
chr172739707127397156E067-34269
chr172739719427397340E067-34085
chr172739753727398526E067-32899
chr172739875527398876E067-32549
chr172739888827398938E067-32487
chr172740027227400511E067-30914
chr172740270027402807E067-28618
chr172740298127403098E067-28327
chr172740342127403461E067-27964
chr172740353527403585E067-27840
chr172740361627403666E067-27759
chr172740379627404242E067-27183
chr172740429227404374E067-27051
chr172740437827404442E067-26983
chr172740444627404710E067-26715
chr172740534527405494E067-25931
chr172740560327405828E067-25597
chr172740590227406424E067-25001
chr172740645927406590E067-24835
chr172741185227412231E067-19194
chr172741226827412393E067-19032
chr172741247727412546E067-18879
chr172741656927417739E067-13686
chr172741780327418325E067-13100
chr172741836427418504E067-12921
chr172743850227439572E0677077
chr172743963627440351E0678211
chr172744043427440688E0679009
chr172744085527440941E0679430
chr172744097627441180E0679551
chr172744344327444806E06712018
chr172745393927454019E06722514
chr172745425327454328E06722828
chr172745445627454706E06723031
chr172745566627455902E06724241
chr172745629927456350E06724874
chr172745639327456525E06724968
chr172745654427456685E06725119
chr172745674727456818E06725322
chr172745755627457665E06726131
chr172745783127458099E06726406
chr172745945727459566E06728032
chr172745972127460799E06728296
chr172746083627460934E06729411
chr172746498827465508E06733563
chr172746935427469465E06737929
chr172747077527471313E06739350
chr172747133727471435E06739912
chr172747147427471586E06740049
chr172747178427471956E06740359
chr172747212127473020E06740696
chr172747526727477729E06743842
chr172747786327477956E06746438
chr172747833127479039E06746906
chr172747914127479209E06747716
chr172748057327480872E06749148
chr172748099627481057E06749571
chr172748113727481187E06749712
chr172748121127481261E06749786
chr172748128727481340E06749862
chr172738446227384768E068-46657
chr172738479027384949E068-46476
chr172738751227387798E068-43627
chr172739227927392420E068-39005
chr172739255327392730E068-38695
chr172739299427393558E068-37867
chr172739532227396269E068-35156
chr172739707127397156E068-34269
chr172739719427397340E068-34085
chr172739753727398526E068-32899
chr172739875527398876E068-32549
chr172739888827398938E068-32487
chr172739963027399749E068-31676
chr172739978827399881E068-31544
chr172740002127400088E068-31337
chr172740027227400511E068-30914
chr172740270027402807E068-28618
chr172740298127403098E068-28327
chr172740342127403461E068-27964
chr172740353527403585E068-27840
chr172740361627403666E068-27759
chr172740379627404242E068-27183
chr172740429227404374E068-27051
chr172740437827404442E068-26983
chr172740444627404710E068-26715
chr172740485727404949E068-26476
chr172740534527405494E068-25931
chr172740560327405828E068-25597
chr172740590227406424E068-25001
chr172740645927406590E068-24835
chr172741656927417739E068-13686
chr172741780327418325E068-13100
chr172741836427418504E068-12921
chr172741873127418930E068-12495
chr172741895127419275E068-12150
chr172741937827419461E068-11964
chr172741947927419559E068-11866
chr172742171027421787E068-9638
chr172742183627421876E068-9549
chr172742209027422316E068-9109
chr172742237827422454E068-8971
chr172742253327422616E068-8809
chr172742269927422801E068-8624
chr172742284527422948E068-8477
chr172742312127423418E068-8007
chr172742344227423502E068-7923
chr172742365027423704E068-7721
chr172742387727423931E068-7494
chr172742414527424185E068-7240
chr172742422127424330E068-7095
chr172742903327429652E068-1773
chr172743495427435834E0683529
chr172743850227439572E0687077
chr172743963627440351E0688211
chr172744043427440688E0689009
chr172744085527440941E0689430
chr172744097627441180E0689551
chr172744127827441422E0689853
chr172744153027441660E06810105
chr172744286127443442E06811436
chr172745179427451930E06820369
chr172745342427453525E06821999
chr172745358827453816E06822163
chr172745654427456685E06825119
chr172745674727456818E06825322
chr172745689927457030E06825474
chr172745738627457443E06825961
chr172745755627457665E06826131
chr172745783127458099E06826406
chr172745821727458262E06826792
chr172745868727459443E06827262
chr172745945727459566E06828032
chr172745972127460799E06828296
chr172746083627460934E06829411
chr172746101327461067E06829588
chr172746111627461192E06829691
chr172746137227461494E06829947
chr172746498827465508E06833563
chr172746935427469465E06837929
chr172747077527471313E06839350
chr172747133727471435E06839912
chr172747147427471586E06840049
chr172747178427471956E06840359
chr172747212127473020E06840696
chr172747526727477729E06843842
chr172747786327477956E06846438
chr172747833127479039E06846906
chr172747914127479209E06847716
chr172747948127479712E06848056
chr172748057327480872E06849148
chr172748099627481057E06849571
chr172748113727481187E06849712
chr172748121127481261E06849786
chr172748128727481340E06849862
chr172738714227387428E069-43997
chr172738751227387798E069-43627
chr172738803627388464E069-42961
chr172738852527388700E069-42725
chr172738877627388826E069-42599
chr172738890327388953E069-42472
chr172739532227396269E069-35156
chr172739662127396998E069-34427
chr172739707127397156E069-34269
chr172739719427397340E069-34085
chr172739753727398526E069-32899
chr172739875527398876E069-32549
chr172739888827398938E069-32487
chr172739900427399058E069-32367
chr172739906827399318E069-32107
chr172739939727399530E069-31895
chr172739963027399749E069-31676
chr172739978827399881E069-31544
chr172740002127400088E069-31337
chr172740027227400511E069-30914
chr172740270027402807E069-28618
chr172740298127403098E069-28327
chr172740342127403461E069-27964
chr172740353527403585E069-27840
chr172740361627403666E069-27759
chr172740379627404242E069-27183
chr172740429227404374E069-27051
chr172740437827404442E069-26983
chr172740444627404710E069-26715
chr172740560327405828E069-25597
chr172740590227406424E069-25001
chr172740645927406590E069-24835
chr172741656927417739E069-13686
chr172741780327418325E069-13100
chr172741836427418504E069-12921
chr172742237827422454E069-8971
chr172742253327422616E069-8809
chr172742269927422801E069-8624
chr172742284527422948E069-8477
chr172742312127423418E069-8007
chr172743850227439572E0697077
chr172743963627440351E0698211
chr172744043427440688E0699009
chr172744085527440941E0699430
chr172744097627441180E0699551
chr172744277627442844E06911351
chr172744286127443442E06911436
chr172744344327444806E06912018
chr172745107227451648E06919647
chr172745179427451930E06920369
chr172745393927454019E06922514
chr172745425327454328E06922828
chr172745445627454706E06923031
chr172745566627455902E06924241
chr172745629927456350E06924874
chr172745639327456525E06924968
chr172745654427456685E06925119
chr172745674727456818E06925322
chr172745689927457030E06925474
chr172745738627457443E06925961
chr172745755627457665E06926131
chr172745783127458099E06926406
chr172745821727458262E06926792
chr172745829427458403E06926869
chr172745841927458499E06926994
chr172745855427458608E06927129
chr172745868727459443E06927262
chr172745945727459566E06928032
chr172745972127460799E06928296
chr172746083627460934E06929411
chr172746498827465508E06933563
chr172746935427469465E06937929
chr172747077527471313E06939350
chr172747133727471435E06939912
chr172747147427471586E06940049
chr172747212127473020E06940696
chr172747526727477729E06943842
chr172747786327477956E06946438
chr172747833127479039E06946906
chr172747914127479209E06947716
chr172747948127479712E06948056
chr172748016227480212E06948737
chr172748057327480872E06949148
chr172748099627481057E06949571
chr172748113727481187E06949712
chr172748121127481261E06949786
chr172748128727481340E06949862
chr172738161327381749E070-49676
chr172738191327382229E070-49196
chr172738248427382579E070-48846
chr172738302127383099E070-48326
chr172738325927383313E070-48112
chr172738338027383613E070-47812
chr172738414427384319E070-47106
chr172738446227384768E070-46657
chr172738479027384949E070-46476
chr172738498827385048E070-46377
chr172738524327385400E070-46025
chr172738642927386709E070-44716
chr172738714227387428E070-43997
chr172738751227387798E070-43627
chr172738803627388464E070-42961
chr172738852527388700E070-42725
chr172738877627388826E070-42599
chr172738890327388953E070-42472
chr172738910327389178E070-42247
chr172738933927389436E070-41989
chr172738959827389680E070-41745
chr172738978527389837E070-41588
chr172738987427390119E070-41306
chr172739299427393558E070-37867
chr172739532227396269E070-35156
chr172739662127396998E070-34427
chr172739707127397156E070-34269
chr172739719427397340E070-34085
chr172739753727398526E070-32899
chr172739875527398876E070-32549
chr172740218827402333E070-29092
chr172740246727402517E070-28908
chr172740270027402807E070-28618
chr172740298127403098E070-28327
chr172740342127403461E070-27964
chr172740353527403585E070-27840
chr172740361627403666E070-27759
chr172740379627404242E070-27183
chr172740429227404374E070-27051
chr172740437827404442E070-26983
chr172740444627404710E070-26715
chr172740485727404949E070-26476
chr172740560327405828E070-25597
chr172740590227406424E070-25001
chr172740645927406590E070-24835
chr172740680427406881E070-24544
chr172740693627407257E070-24168
chr172740726527407319E070-24106
chr172740744427407611E070-23814
chr172740763927407693E070-23732
chr172740778827407893E070-23532
chr172740795727408007E070-23418
chr172740809627408406E070-23019
chr172740919327409269E070-22156
chr172740948127409672E070-21753
chr172741091127411031E070-20394
chr172741118527411242E070-20183
chr172741136527411447E070-19978
chr172741156727411762E070-19663
chr172741185227412231E070-19194
chr172741226827412393E070-19032
chr172741247727412546E070-18879
chr172741286927412919E070-18506
chr172741298127413031E070-18394
chr172741325927413356E070-18069
chr172741836427418504E070-12921
chr172741895127419275E070-12150
chr172741937827419461E070-11964
chr172741947927419559E070-11866
chr172741970327419770E070-11655
chr172742011127420204E070-11221
chr172742022227420272E070-11153
chr172742028227420386E070-11039
chr172742344227423502E070-7923
chr172742365027423704E070-7721
chr172742903327429652E070-1773
chr172743495427435834E0703529
chr172743599827436104E0704573
chr172743850227439572E0707077
chr172743963627440351E0708211
chr172744043427440688E0709009
chr172744344327444806E07012018
chr172747077527471313E07039350
chr172747133727471435E07039912
chr172747147427471586E07040049
chr172747178427471956E07040359
chr172747212127473020E07040696
chr172739532227396269E071-35156
chr172739662127396998E071-34427
chr172739707127397156E071-34269
chr172739719427397340E071-34085
chr172739753727398526E071-32899
chr172739875527398876E071-32549
chr172739888827398938E071-32487
chr172739963027399749E071-31676
chr172739978827399881E071-31544
chr172740002127400088E071-31337
chr172740027227400511E071-30914
chr172740067027400844E071-30581
chr172740101727401067E071-30358
chr172740132027401425E071-30000
chr172740144127401528E071-29897
chr172740158027401657E071-29768
chr172740172327401944E071-29481
chr172740195227402099E071-29326
chr172740210827402161E071-29264
chr172740218827402333E071-29092
chr172740246727402517E071-28908
chr172740270027402807E071-28618
chr172740298127403098E071-28327
chr172740342127403461E071-27964
chr172740353527403585E071-27840
chr172740361627403666E071-27759
chr172740379627404242E071-27183
chr172740429227404374E071-27051
chr172740437827404442E071-26983
chr172740444627404710E071-26715
chr172740485727404949E071-26476
chr172740534527405494E071-25931
chr172740560327405828E071-25597
chr172741656927417739E071-13686
chr172741780327418325E071-13100
chr172741836427418504E071-12921
chr172741873127418930E071-12495
chr172741895127419275E071-12150
chr172743850227439572E0717077
chr172743963627440351E0718211
chr172744043427440688E0719009
chr172744085527440941E0719430
chr172744097627441180E0719551
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chr172744344327444806E07112018
chr172744484627444896E07113421
chr172744496727445098E07113542
chr172745107227451648E07119647
chr172745358827453816E07122163
chr172745393927454019E07122514
chr172745425327454328E07122828
chr172745445627454706E07123031
chr172745480727454900E07123382
chr172745493027455006E07123505
chr172745508027455169E07123655
chr172745522327455326E07123798
chr172745555327455627E07124128
chr172745566627455902E07124241
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chr172745639327456525E07124968
chr172745654427456685E07125119
chr172745674727456818E07125322
chr172745689927457030E07125474
chr172745738627457443E07125961
chr172745755627457665E07126131
chr172745783127458099E07126406
chr172745821727458262E07126792
chr172745829427458403E07126869
chr172745841927458499E07126994
chr172745855427458608E07127129
chr172745868727459443E07127262
chr172745945727459566E07128032
chr172745972127460799E07128296
chr172746083627460934E07129411
chr172746101327461067E07129588
chr172746111627461192E07129691
chr172746498827465508E07133563
chr172746935427469465E07137929
chr172746950527469801E07138080
chr172747011027470240E07138685
chr172747077527471313E07139350
chr172747133727471435E07139912
chr172747147427471586E07140049
chr172747178427471956E07140359
chr172747212127473020E07140696
chr172747786327477956E07146438
chr172747833127479039E07146906
chr172747914127479209E07147716
chr172747948127479712E07148056
chr172748016227480212E07148737
chr172748057327480872E07149148
chr172748099627481057E07149571
chr172748113727481187E07149712
chr172748121127481261E07149786
chr172748128727481340E07149862
chr172738714227387428E072-43997
chr172738751227387798E072-43627
chr172738803627388464E072-42961
chr172738852527388700E072-42725
chr172738877627388826E072-42599
chr172739707127397156E072-34269
chr172739719427397340E072-34085
chr172739753727398526E072-32899
chr172739875527398876E072-32549
chr172739888827398938E072-32487
chr172739900427399058E072-32367
chr172739906827399318E072-32107
chr172739939727399530E072-31895
chr172739963027399749E072-31676
chr172739978827399881E072-31544
chr172740002127400088E072-31337
chr172740027227400511E072-30914
chr172740342127403461E072-27964
chr172740353527403585E072-27840
chr172740361627403666E072-27759
chr172740379627404242E072-27183
chr172740429227404374E072-27051
chr172740437827404442E072-26983
chr172740444627404710E072-26715
chr172740485727404949E072-26476
chr172740534527405494E072-25931
chr172740560327405828E072-25597
chr172740590227406424E072-25001
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