rs6690536

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0223 (6678/29948,GnomAD)
C=0243 (7097/29118,TOPMED)
C=0224 (1123/5008,1000G)
C=0263 (1012/3854,ALSPAC)
C=0269 (998/3708,TWINSUK)
chr1:110854829 (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.110854829T>C
GRCh37.p13 chr 1NC_000001.10:g.111397451T>C
OR11I1P pseudogeneNG_003221.2:g.831T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.828C=0.172
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.883C=0.117
1000GenomesEuropeSub1006T=0.723C=0.277
1000GenomesGlobalStudy-wide5008T=0.776C=0.224
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.737C=0.263
The Genome Aggregation DatabaseAfricanSub8716T=0.817C=0.183
The Genome Aggregation DatabaseAmericanSub836T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1620T=0.878C=0.122
The Genome Aggregation DatabaseEuropeSub18474T=0.755C=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.777C=0.223
The Genome Aggregation DatabaseOtherSub302T=0.610C=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.756C=0.243
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.731C=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
rs66905360.00017alcohol dependence(early age of onset)20201924
rs66905360.00048alcohol dependence20201924

eQTL of rs6690536 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:111397451CD53ENSG00000143119.8T>C1.5723e-7-18324Frontal_Cortex_BA9
Chr1:111397451CD53ENSG00000143119.8T>C8.9309e-6-18324Cortex

meQTL of rs6690536 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 )
chr1111413648111414008E07416197
chr1111414054111414126E07416603

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1111416015111416216E06718564
chr1111416227111416294E06718776
chr1111416347111416913E06718896
chr1111416015111416216E06818564
chr1111416227111416294E06818776
chr1111416347111416913E06818896
chr1111416919111417581E06819468
chr1111417654111418436E06820203
chr1111416347111416913E06918896
chr1111415395111415943E07117944
chr1111416015111416216E07118564
chr1111416227111416294E07118776
chr1111416347111416913E07118896
chr1111416919111417581E07119468
chr1111417654111418436E07120203
chr1111418524111418574E07121073
chr1111416347111416913E07218896
chr1111416919111417581E07219468
chr1111417654111418436E07220203
chr1111418524111418574E07221073
chr1111416015111416216E07418564
chr1111416227111416294E07418776
chr1111416347111416913E07418896
chr1111417654111418436E07420203
chr1111418524111418574E07421073