rs1941220

Homo sapiens
A>G
OPCML : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0432 (12932/29918,GnomAD)
A==0397 (11571/29118,TOPMED)
A==0301 (1507/5008,1000G)
A==0469 (1808/3854,ALSPAC)
A==0463 (1717/3708,TWINSUK)
chr11:133284546 (GRCh38.p7) (11q25)
AD
GWASdb2
1   publication(s)
See rs on genome
76 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.133284546A>G
GRCh37.p13 chr 11NC_000011.9:g.133154441A>G
OPCML RefSeqGeneNG_012107.1:g.252963T>C

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
1000GenomesAfricanSub1322A=0.396G=0.604
1000GenomesAmericanSub694A=0.240G=0.760
1000GenomesEast AsianSub1008A=0.080G=0.920
1000GenomesEuropeSub1006A=0.471G=0.529
1000GenomesGlobalStudy-wide5008A=0.301G=0.699
1000GenomesSouth AsianSub978A=0.260G=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.469G=0.531
The Genome Aggregation DatabaseAfricanSub8708A=0.424G=0.576
The Genome Aggregation DatabaseAmericanSub838A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1618A=0.099G=0.901
The Genome Aggregation DatabaseEuropeSub18452A=0.474G=0.525
The Genome Aggregation DatabaseGlobalStudy-wide29918A=0.432G=0.567
The Genome Aggregation DatabaseOtherSub302A=0.440G=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.397G=0.602
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.463G=0.537
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
rs19412200.000655alcohol consumption (maxi-drinks)24277619

eQTL of rs1941220 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 rs1941220 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 )
chr11133105553133105722E067-48719
chr11133106140133106194E067-48247
chr11133181215133181354E06726774
chr11133181549133181599E06727108
chr11133193149133193199E06738708
chr11133193364133193511E06738923
chr11133193671133193725E06739230
chr11133193785133194775E06739344
chr11133193149133193199E06838708
chr11133193364133193511E06838923
chr11133194949133195065E06840508
chr11133106140133106194E069-48247
chr11133106290133106340E069-48101
chr11133106725133106786E069-47655
chr11133107050133107104E069-47337
chr11133107634133107909E069-46532
chr11133108039133108196E069-46245
chr11133193364133193511E06938923
chr11133193671133193725E06939230
chr11133193785133194775E06939344
chr11133106725133106786E070-47655
chr11133107050133107104E070-47337
chr11133107634133107909E070-46532
chr11133108039133108196E070-46245
chr11133108260133109038E070-45403
chr11133109092133109279E070-45162
chr11133109363133109540E070-44901
chr11133109581133109764E070-44677
chr11133137002133137168E070-17273
chr11133193149133193199E07038708
chr11133193364133193511E07038923
chr11133193671133193725E07039230
chr11133193785133194775E07039344
chr11133105391133105544E071-48897
chr11133105553133105722E071-48719
chr11133106140133106194E071-48247
chr11133105553133105722E072-48719
chr11133106140133106194E072-48247
chr11133193149133193199E07238708
chr11133193364133193511E07238923
chr11133105553133105722E073-48719
chr11133106140133106194E073-48247
chr11133193671133193725E07339230
chr11133105391133105544E074-48897
chr11133105553133105722E074-48719
chr11133106140133106194E074-48247
chr11133128525133128624E081-25817
chr11133128752133128963E081-25478
chr11133129346133129436E081-25005
chr11133135242133135292E081-19149
chr11133135483133136088E081-18353
chr11133136221133136279E081-18162
chr11133137002133137168E081-17273
chr11133192606133192704E08138165
chr11133193149133193199E08138708
chr11133193364133193511E08138923
chr11133193671133193725E08139230
chr11133193785133194775E08139344
chr11133194949133195065E08140508
chr11133195583133195907E08141142
chr11133196148133196211E08141707
chr11133197025133197100E08142584
chr11133128043133128100E082-26341
chr11133128124133128174E082-26267
chr11133135242133135292E082-19149
chr11133135483133136088E082-18353
chr11133180695133180745E08226254
chr11133191361133191483E08236920
chr11133192289133192520E08237848
chr11133192606133192704E08238165
chr11133193149133193199E08238708
chr11133193364133193511E08238923
chr11133193671133193725E08239230
chr11133193785133194775E08239344
chr11133194949133195065E08240508
chr11133195583133195907E08241142