rs9973480

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0140 (4208/29950,GnomAD)
C=0184 (5384/29118,TOPMED)
C=0154 (769/5008,1000G)
C=0073 (283/3854,ALSPAC)
C=0085 (316/3708,TWINSUK)
chr2:230708669 (GRCh38.p7) (2q37.1)
AD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.230708669A>C
GRCh37.p13 chr 2NC_000002.11:g.231573384A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.620C=0.380
1000GenomesAmericanSub694A=0.910C=0.090
1000GenomesEast AsianSub1008A=0.933C=0.067
1000GenomesEuropeSub1006A=0.923C=0.077
1000GenomesGlobalStudy-wide5008A=0.846C=0.154
1000GenomesSouth AsianSub978A=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.927C=0.073
The Genome Aggregation DatabaseAfricanSub8712A=0.692C=0.308
The Genome Aggregation DatabaseAmericanSub838A=0.930C=0.070
The Genome Aggregation DatabaseEast AsianSub1622A=0.974C=0.026
The Genome Aggregation DatabaseEuropeSub18476A=0.924C=0.075
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.859C=0.140
The Genome Aggregation DatabaseOtherSub302A=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.815C=0.184
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.915C=0.085
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
rs99734800.00029alcohol dependence(early age of onset)20201924
rs99734800.00053alcohol dependence20201924

eQTL of rs9973480 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 rs9973480 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 )
chr2231580545231580595E0677161
chr2231582211231582261E0678827
chr2231582286231582469E0678902
chr2231582481231582658E0679097
chr2231582802231583082E0679418
chr2231584571231584661E06711187
chr2231584774231584855E06711390
chr2231602916231603530E06729532
chr2231580545231580595E0687161
chr2231582211231582261E0688827
chr2231582286231582469E0688902
chr2231582481231582658E0689097
chr2231600670231600765E06827286
chr2231602195231602249E06828811
chr2231602514231602906E06829130
chr2231602916231603530E06829532
chr2231615732231616286E06842348
chr2231528827231529058E069-44326
chr2231529518231529647E069-43737
chr2231555331231555518E069-17866
chr2231580545231580595E0697161
chr2231582286231582469E0698902
chr2231582481231582658E0699097
chr2231582802231583082E0699418
chr2231602916231603530E06929532
chr2231615732231616286E06942348
chr2231580545231580595E0707161
chr2231528827231529058E071-44326
chr2231533864231533993E071-39391
chr2231534078231534118E071-39266
chr2231534180231534340E071-39044
chr2231580805231580875E0717421
chr2231582211231582261E0718827
chr2231582286231582469E0718902
chr2231582481231582658E0719097
chr2231582802231583082E0719418
chr2231602916231603530E07129532
chr2231615732231616286E07142348
chr2231616417231616469E07143033
chr2231621875231621956E07148491
chr2231622073231622215E07148689
chr2231622270231622438E07148886
chr2231580545231580595E0727161
chr2231580805231580875E0727421
chr2231582286231582469E0728902
chr2231582481231582658E0729097
chr2231582802231583082E0729418
chr2231602916231603530E07229532
chr2231615732231616286E07242348
chr2231620627231621187E07247243
chr2231555760231556208E073-17176
chr2231580545231580595E0737161
chr2231582211231582261E0738827
chr2231582286231582469E0738902
chr2231582481231582658E0739097
chr2231617518231617727E07344134
chr2231580545231580595E0747161
chr2231582286231582469E0748902
chr2231582481231582658E0749097
chr2231582802231583082E0749418
chr2231584571231584661E07411187
chr2231584774231584855E07411390
chr2231602514231602906E07429130
chr2231602916231603530E07429532
chr2231615732231616286E07442348
chr2231555331231555518E081-17866
chr2231580545231580595E0817161
chr2231555331231555518E082-17866










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2231576818231579281E0673434
chr2231576818231579281E0683434
chr2231576818231579281E0693434
chr2231576818231579281E0703434
chr2231576818231579281E0713434
chr2231576818231579281E0723434
chr2231576818231579281E0733434
chr2231576818231579281E0743434
chr2231576818231579281E0813434
chr2231576818231579281E0823434