rs2205953

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0060 (1812/29964,GnomAD)
T==0056 (1633/29118,TOPMED)
T==0037 (185/5008,1000G)
T==0085 (328/3854,ALSPAC)
T==0078 (288/3708,TWINSUK)
chr1:186723430 (GRCh38.p7) (1q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.186723430T>C
GRCh37.p13 chr 1NC_000001.10:g.186692562T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.017C=0.983
1000GenomesAmericanSub694T=0.020C=0.980
1000GenomesEast AsianSub1008T=0.004C=0.996
1000GenomesEuropeSub1006T=0.066C=0.934
1000GenomesGlobalStudy-wide5008T=0.037C=0.963
1000GenomesSouth AsianSub978T=0.080C=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.085C=0.915
The Genome Aggregation DatabaseAfricanSub8724T=0.023C=0.977
The Genome Aggregation DatabaseAmericanSub838T=0.030C=0.970
The Genome Aggregation DatabaseEast AsianSub1618T=0.002C=0.998
The Genome Aggregation DatabaseEuropeSub18482T=0.084C=0.915
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.060C=0.939
The Genome Aggregation DatabaseOtherSub302T=0.040C=0.960
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.056C=0.943
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.078C=0.922
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22059530.000778alcohol dependence21314694

eQTL of rs2205953 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 rs2205953 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1186648417186648494E067-44068
chr1186648527186648586E067-43976
chr1186648638186648728E067-43834
chr1186648866186648927E067-43635
chr1186649114186650821E067-41741
chr1186649114186650821E068-41741
chr1186649114186650821E069-41741
chr1186648866186648927E071-43635
chr1186649114186650821E071-41741
chr1186648638186648728E072-43834
chr1186648866186648927E072-43635
chr1186649114186650821E072-41741
chr1186650923186651301E072-41261
chr1186648417186648494E073-44068
chr1186648527186648586E073-43976
chr1186648638186648728E073-43834
chr1186648866186648927E073-43635
chr1186649114186650821E073-41741
chr1186649114186650821E074-41741
chr1186649114186650821E082-41741