rs17567131

Homo sapiens
G>A
OCA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0034 (1023/29998,GnomAD)
A=0036 (1058/29118,TOPMED)
A=0049 (247/5008,1000G)
A=0057 (221/3854,ALSPAC)
A=0049 (183/3708,TWINSUK)
chr15:28006367 (GRCh38.p7) (15q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
129 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.28006367G>A
GRCh37.p13 chr 15NC_000015.9:g.28251513G>A
OCA2 RefSeqGeneNG_009846.1:g.97946C>T
GRCh38.p7 chr 15 fix patch HG2139_PATCHNW_011332701.1:g.140663G>A
GRCh38.p7 chr 15 alt locus HSCHR15_4_CTG8NT_187660.1:g.140663G>A

Gene: OCA2, OCA2 melanosomal transmembrane protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OCA2 transcript variant 1NM_000275.2:c.N/AIntron Variant
OCA2 transcript variant 2NM_001300984.1:c.N/AIntron Variant
OCA2 transcript variant X2XM_011521640.2:c.N/AIntron Variant
OCA2 transcript variant X1XM_017022255.1:c.N/AIntron Variant
OCA2 transcript variant X3XM_017022256.1:c.N/AIntron Variant
OCA2 transcript variant X4XM_017022257.1:c.N/AIntron Variant
OCA2 transcript variant X5XM_017022258.1:c.N/AIntron Variant
OCA2 transcript variant X6XM_017022259.1:c.N/AIntron Variant
OCA2 transcript variant X7XM_017022260.1:c.N/AIntron Variant
OCA2 transcript variant X8XM_017022261.1:c.N/AIntron Variant
OCA2 transcript variant X9XM_017022262.1:c.N/AIntron Variant
OCA2 transcript variant X10XM_017022263.1:c.N/AIntron Variant
OCA2 transcript variant X11XM_017022264.1:c.N/AIntron Variant
OCA2 transcript variant X12XM_017022265.1:c.N/AIntron Variant
OCA2 transcript variant X13XR_001751294.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.994A=0.006
1000GenomesAmericanSub694G=0.950A=0.050
1000GenomesEast AsianSub1008G=0.995A=0.005
1000GenomesEuropeSub1006G=0.934A=0.066
1000GenomesGlobalStudy-wide5008G=0.951A=0.049
1000GenomesSouth AsianSub978G=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.943A=0.057
The Genome Aggregation DatabaseAfricanSub8732G=0.990A=0.010
The Genome Aggregation DatabaseAmericanSub838G=0.960A=0.040
The Genome Aggregation DatabaseEast AsianSub1620G=0.991A=0.009
The Genome Aggregation DatabaseEuropeSub18506G=0.955A=0.044
The Genome Aggregation DatabaseGlobalStudy-wide29998G=0.965A=0.034
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.963A=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.951A=0.049
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs175671310.000884alcohol consumption (maxi-drinks)24277619

eQTL of rs17567131 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 rs17567131 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 )
chr152826595328266009E06714440
chr152826612128266171E06714608
chr152826678328267386E06715270
chr152826745428267525E06715941
chr152826550328265640E06813990
chr152826658128266761E06815068
chr152826678328267386E06815270
chr152826745428267525E06815941
chr152826760628267687E06816093
chr152826779428267844E06816281
chr152826865028268704E06817137
chr152826658128266761E06915068
chr152826678328267386E06915270
chr152826745428267525E06915941
chr152826760628267687E06916093
chr152826779428267844E06916281
chr152821035428210408E070-41105
chr152821080528210951E070-40562
chr152823499528235131E070-16382
chr152823514728235202E070-16311
chr152823531628235569E070-15944
chr152823574328235966E070-15547
chr152823603128236655E070-14858
chr152823665828236781E070-14732
chr152823690228236996E070-14517
chr152823709228237146E070-14367
chr152825181328252014E070300
chr152826379428263874E07012281
chr152826392828263991E07012415
chr152826420228264281E07012689
chr152826455228264783E07013039
chr152826482128265411E07013308
chr152826550328265640E07013990
chr152826566928265896E07014156
chr152826678328267386E07015270
chr152826745428267525E07015941
chr152826760628267687E07016093
chr152826779428267844E07016281
chr152826833728268413E07016824
chr152826865028268704E07017137
chr152826901628269066E07017503
chr152826912628269176E07017613
chr152826937528269425E07017862
chr152827055328270630E07019040
chr152827075228270802E07019239
chr152827089228271488E07019379
chr152827233828272378E07020825
chr152827243528272485E07020922
chr152829690228297008E07045389
chr152829717428297281E07045661
chr152829729828297654E07045785
chr152826595328266009E07114440
chr152826678328267386E07115270
chr152826745428267525E07115941
chr152826745428267525E07215941
chr152826833728268413E07216824
chr152826865028268704E07217137
chr152826566928265896E07314156
chr152826595328266009E07314440
chr152826612128266171E07314608
chr152826745428267525E07315941
chr152826760628267687E07316093
chr152826779428267844E07316281
chr152826865028268704E07317137
chr152820404528204122E081-47391
chr152823499528235131E081-16382
chr152823514728235202E081-16311
chr152823531628235569E081-15944
chr152823574328235966E081-15547
chr152823603128236655E081-14858
chr152823665828236781E081-14732
chr152823968428239822E081-11691
chr152826637828266422E08114865
chr152826644628266505E08114933
chr152826658128266761E08115068
chr152826678328267386E08115270
chr152826745428267525E08115941
chr152826760628267687E08116093
chr152826779428267844E08116281
chr152826833728268413E08116824
chr152826865028268704E08117137
chr152826990128269951E08118388
chr152827000328270053E08118490
chr152827010528270255E08118592
chr152827034428270394E08118831
chr152827055328270630E08119040
chr152827075228270802E08119239
chr152827089228271488E08119379
chr152827233828272378E08120825
chr152827243528272485E08120922
chr152828333028283991E08131817
chr152828814528288203E08136632
chr152828834828288398E08136835
chr152828857028289370E08137057
chr152828939428289746E08137881
chr152828979628289846E08138283
chr152829572728295817E08144214
chr152829588928295992E08144376
chr152829615928296240E08144646
chr152829933928299508E08147826
chr152823465928234839E082-16674
chr152823499528235131E082-16382
chr152823514728235202E082-16311
chr152823531628235569E082-15944
chr152823574328235966E082-15547
chr152823603128236655E082-14858
chr152823665828236781E082-14732
chr152823968428239822E082-11691
chr152826482128265411E08213308
chr152826550328265640E08213990
chr152826566928265896E08214156
chr152826658128266761E08215068
chr152826678328267386E08215270
chr152826745428267525E08215941
chr152826760628267687E08216093
chr152826779428267844E08216281
chr152826833728268413E08216824
chr152826937528269425E08217862
chr152827055328270630E08219040
chr152827075228270802E08219239
chr152827089228271488E08219379
chr152828207928282205E08230566
chr152828333028283991E08231817
chr152828857028289370E08237057
chr152828939428289746E08237881
chr152828979628289846E08238283
chr152829690228297008E08245389
chr152829717428297281E08245661
chr152829729828297654E08245785