rs10894669

Homo sapiens
C>A
OPCML : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0219 (6582/29960,GnomAD)
A=0174 (5094/29118,TOPMED)
A=0128 (639/5008,1000G)
A=0295 (1138/3854,ALSPAC)
A=0312 (1158/3708,TWINSUK)
chr11:133337045 (GRCh38.p7) (11q25)
AD
GWASdb2
1   publication(s)
See rs on genome
108 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.133337045C>A
GRCh37.p13 chr 11NC_000011.9:g.133206940C>A
OPCML RefSeqGeneNG_012107.1:g.200464G>T

Gene: OPCML, opioid binding protein/cell adhesion molecule-like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OPCML transcript variant 2NM_001012393.2:c.N/AIntron Variant
OPCML transcript variant 4NM_001319104.1:c.N/AIntron Variant
OPCML transcript variant 3NM_001319103.1:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant 5NM_001319105.1:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant 6NM_001319106.1:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant 1NM_002545.4:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant X1XM_006718846.2:c.N/AIntron Variant
OPCML transcript variant X2XM_011542856.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.986A=0.014
1000GenomesAmericanSub694C=0.870A=0.130
1000GenomesEast AsianSub1008C=0.950A=0.050
1000GenomesEuropeSub1006C=0.685A=0.315
1000GenomesGlobalStudy-wide5008C=0.872A=0.128
1000GenomesSouth AsianSub978C=0.830A=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.705A=0.295
The Genome Aggregation DatabaseAfricanSub8724C=0.948A=0.052
The Genome Aggregation DatabaseAmericanSub838C=0.840A=0.160
The Genome Aggregation DatabaseEast AsianSub1622C=0.954A=0.046
The Genome Aggregation DatabaseEuropeSub18474C=0.684A=0.315
The Genome Aggregation DatabaseGlobalStudy-wide29960C=0.780A=0.219
The Genome Aggregation DatabaseOtherSub302C=0.720A=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.825A=0.174
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.688A=0.312
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
rs108946690.000797alcohol consumption (maxi-drinks)24277619

eQTL of rs10894669 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 rs10894669 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 )
chr11133181215133181354E067-25586
chr11133181549133181599E067-25341
chr11133193149133193199E067-13741
chr11133193364133193511E067-13429
chr11133193671133193725E067-13215
chr11133193785133194775E067-12165
chr11133207306133207415E067366
chr11133207897133208031E067957
chr11133209260133209342E0672320
chr11133209526133209626E0672586
chr11133210078133210158E0673138
chr11133210191133210241E0673251
chr11133193149133193199E068-13741
chr11133193364133193511E068-13429
chr11133194949133195065E068-11875
chr11133208505133208591E0681565
chr11133208620133208670E0681680
chr11133208893133208979E0681953
chr11133209260133209342E0682320
chr11133209526133209626E0682586
chr11133210078133210158E0683138
chr11133210191133210241E0683251
chr11133210243133210293E0683303
chr11133193364133193511E069-13429
chr11133193671133193725E069-13215
chr11133193785133194775E069-12165
chr11133208103133208237E0691163
chr11133208505133208591E0691565
chr11133208620133208670E0691680
chr11133208893133208979E0691953
chr11133209260133209342E0692320
chr11133209526133209626E0692586
chr11133210078133210158E0693138
chr11133210191133210241E0693251
chr11133193149133193199E070-13741
chr11133193364133193511E070-13429
chr11133193671133193725E070-13215
chr11133193785133194775E070-12165
chr11133250953133251121E07044013
chr11133251181133251235E07044241
chr11133251396133251448E07044456
chr11133251471133251581E07044531
chr11133251789133252549E07044849
chr11133207897133208031E071957
chr11133208103133208237E0711163
chr11133208505133208591E0711565
chr11133208620133208670E0711680
chr11133208893133208979E0711953
chr11133209260133209342E0712320
chr11133209526133209626E0712586
chr11133210078133210158E0713138
chr11133210191133210241E0713251
chr11133210243133210293E0713303
chr11133193149133193199E072-13741
chr11133193364133193511E072-13429
chr11133208103133208237E0721163
chr11133208505133208591E0721565
chr11133208620133208670E0721680
chr11133208893133208979E0721953
chr11133209260133209342E0722320
chr11133209526133209626E0722586
chr11133210078133210158E0723138
chr11133210191133210241E0723251
chr11133252847133252887E07245907
chr11133193671133193725E073-13215
chr11133207897133208031E073957
chr11133208103133208237E0731163
chr11133208505133208591E0731565
chr11133208620133208670E0731680
chr11133208893133208979E0731953
chr11133209260133209342E0732320
chr11133209526133209626E0732586
chr11133210819133210869E0733879
chr11133208620133208670E0741680
chr11133208893133208979E0741953
chr11133209260133209342E0742320
chr11133209526133209626E0742586
chr11133210078133210158E0743138
chr11133210191133210241E0743251
chr11133210243133210293E0743303
chr11133192606133192704E081-14236
chr11133193149133193199E081-13741
chr11133193364133193511E081-13429
chr11133193671133193725E081-13215
chr11133193785133194775E081-12165
chr11133194949133195065E081-11875
chr11133195583133195907E081-11033
chr11133196148133196211E081-10729
chr11133197025133197100E081-9840
chr11133216135133216364E0819195
chr11133216414133216464E0819474
chr11133251789133252549E08144849
chr11133180695133180745E082-26195
chr11133191361133191483E082-15457
chr11133192289133192520E082-14420
chr11133192606133192704E082-14236
chr11133193149133193199E082-13741
chr11133193364133193511E082-13429
chr11133193671133193725E082-13215
chr11133193785133194775E082-12165
chr11133194949133195065E082-11875
chr11133195583133195907E082-11033
chr11133252847133252887E08245907
chr11133253118133253361E08246178
chr11133253643133254047E08246703
chr11133254068133254108E08247128
chr11133254206133254265E08247266
chr11133254386133254498E08247446