rs6672672

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0224 (6710/29890,GnomAD)
T=0245 (7142/29118,TOPMED)
T=0227 (1135/5008,1000G)
T=0265 (1023/3854,ALSPAC)
T=0273 (1011/3708,TWINSUK)
chr1:110854468 (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.110854468C>T
GRCh37.p13 chr 1NC_000001.10:g.111397090C>T
OR11I1P pseudogeneNG_003221.2:g.470C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.827T=0.173
1000GenomesAmericanSub694C=0.700T=0.300
1000GenomesEast AsianSub1008C=0.883T=0.117
1000GenomesEuropeSub1006C=0.716T=0.284
1000GenomesGlobalStudy-wide5008C=0.773T=0.227
1000GenomesSouth AsianSub978C=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.735T=0.265
The Genome Aggregation DatabaseAfricanSub8686C=0.817T=0.183
The Genome Aggregation DatabaseAmericanSub836C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1620C=0.878T=0.122
The Genome Aggregation DatabaseEuropeSub18446C=0.753T=0.246
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.775T=0.224
The Genome Aggregation DatabaseOtherSub302C=0.610T=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.754T=0.245
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.727T=0.273
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
rs66726720.000072alcohol dependence(early age of onset)20201924
rs66726720.0000722alcoholismpha002892
rs66726720.00031alcohol dependence20201924

eQTL of rs6672672 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:111397090CD53ENSG00000143119.8C>T1.5723e-7-18685Frontal_Cortex_BA9
Chr1:111397090CD53ENSG00000143119.8C>T8.9309e-6-18685Cortex

meQTL of rs6672672 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 )
chr1111413648111414008E07416558
chr1111414054111414126E07416964

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1111416015111416216E06718925
chr1111416227111416294E06719137
chr1111416347111416913E06719257
chr1111416015111416216E06818925
chr1111416227111416294E06819137
chr1111416347111416913E06819257
chr1111416919111417581E06819829
chr1111417654111418436E06820564
chr1111416347111416913E06919257
chr1111415395111415943E07118305
chr1111416015111416216E07118925
chr1111416227111416294E07119137
chr1111416347111416913E07119257
chr1111416919111417581E07119829
chr1111417654111418436E07120564
chr1111418524111418574E07121434
chr1111416347111416913E07219257
chr1111416919111417581E07219829
chr1111417654111418436E07220564
chr1111418524111418574E07221434
chr1111416015111416216E07418925
chr1111416227111416294E07419137
chr1111416347111416913E07419257
chr1111417654111418436E07420564
chr1111418524111418574E07421434