rs195204

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0210 (6293/29928,GnomAD)
C=0194 (5668/29118,TOPMED)
C=0287 (1435/5008,1000G)
C=0237 (913/3854,ALSPAC)
C=0244 (904/3708,TWINSUK)
chr1:115191470 (GRCh38.p7) (1p13.2)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.115191470T>C
GRCh37.p13 chr 1NC_000001.10:g.115734091T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.906C=0.094
1000GenomesAmericanSub694T=0.660C=0.340
1000GenomesEast AsianSub1008T=0.611C=0.389
1000GenomesEuropeSub1006T=0.759C=0.241
1000GenomesGlobalStudy-wide5008T=0.713C=0.287
1000GenomesSouth AsianSub978T=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.763C=0.237
The Genome Aggregation DatabaseAfricanSub8714T=0.881C=0.119
The Genome Aggregation DatabaseAmericanSub836T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1616T=0.628C=0.372
The Genome Aggregation DatabaseEuropeSub18460T=0.768C=0.231
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.789C=0.210
The Genome Aggregation DatabaseOtherSub302T=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.805C=0.194
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.756C=0.244
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs1952040.000009alcoholism (heaviness of drinking)21529783
rs1952049.00E-06alcohol dependence21529783

eQTL of rs195204 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 rs195204 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 )
chr1115729380115729475E067-4616
chr1115729570115729719E067-4372
chr1115727449115727873E068-6218
chr1115729380115729475E068-4616
chr1115729570115729719E068-4372
chr1115729380115729475E069-4616
chr1115729570115729719E069-4372
chr1115772428115772490E06938337
chr1115772556115772616E06938465
chr1115772967115773162E06938876
chr1115773206115773422E06939115
chr1115758780115758830E07024689
chr1115758873115758931E07024782
chr1115758992115759051E07024901
chr1115729380115729475E071-4616
chr1115729570115729719E071-4372
chr1115729380115729475E072-4616
chr1115729570115729719E072-4372
chr1115773206115773422E07239115
chr1115772967115773162E07438876
chr1115773206115773422E07439115
chr1115726295115727392E081-6699
chr1115727449115727873E081-6218
chr1115734909115735043E081818
chr1115735122115735198E0811031
chr1115736693115736824E0812602
chr1115766874115767277E08132783
chr1115725883115725998E082-8093
chr1115726295115727392E082-6699