rs6687919

Homo sapiens
T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0222 (6678/29954,GnomAD)
G=0243 (7098/29118,TOPMED)
G=0224 (1123/5008,1000G)
G=0263 (1012/3854,ALSPAC)
G=0269 (997/3708,TWINSUK)
chr1:110854554 (GRCh38.p7) (1p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.110854554T>G
GRCh37.p13 chr 1NC_000001.10:g.111397176T>G
OR11I1P pseudogeneNG_003221.2:g.556T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.828G=0.172
1000GenomesAmericanSub694T=0.710G=0.290
1000GenomesEast AsianSub1008T=0.883G=0.117
1000GenomesEuropeSub1006T=0.723G=0.277
1000GenomesGlobalStudy-wide5008T=0.776G=0.224
1000GenomesSouth AsianSub978T=0.700G=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.737G=0.263
The Genome Aggregation DatabaseAfricanSub8710T=0.817G=0.183
The Genome Aggregation DatabaseAmericanSub836T=0.690G=0.310
The Genome Aggregation DatabaseEast AsianSub1622T=0.879G=0.121
The Genome Aggregation DatabaseEuropeSub18484T=0.756G=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.777G=0.222
The Genome Aggregation DatabaseOtherSub302T=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.756G=0.243
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.731G=0.269
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs66879190.00015alcohol dependence(early age of onset)20201924
rs66879190.00044alcohol dependence20201924

eQTL of rs6687919 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:111397176CD53ENSG00000143119.8T>G1.5723e-7-18599Frontal_Cortex_BA9
Chr1:111397176CD53ENSG00000143119.8T>G8.9309e-6-18599Cortex

meQTL of rs6687919 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 )
chr1111413648111414008E07416472
chr1111414054111414126E07416878

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1111416015111416216E06718839
chr1111416227111416294E06719051
chr1111416347111416913E06719171
chr1111416015111416216E06818839
chr1111416227111416294E06819051
chr1111416347111416913E06819171
chr1111416919111417581E06819743
chr1111417654111418436E06820478
chr1111416347111416913E06919171
chr1111415395111415943E07118219
chr1111416015111416216E07118839
chr1111416227111416294E07119051
chr1111416347111416913E07119171
chr1111416919111417581E07119743
chr1111417654111418436E07120478
chr1111418524111418574E07121348
chr1111416347111416913E07219171
chr1111416919111417581E07219743
chr1111417654111418436E07220478
chr1111418524111418574E07221348
chr1111416015111416216E07418839
chr1111416227111416294E07419051
chr1111416347111416913E07419171
chr1111417654111418436E07420478
chr1111418524111418574E07421348