rs343819

Homo sapiens
C>G / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0246 (7364/29890,GnomAD)
T=0267 (7796/29118,TOPMED)
T=0227 (1139/5008,1000G)
T=0264 (1018/3854,ALSPAC)
T=0279 (1033/3708,TWINSUK)
chr1:110799868 (GRCh38.p7) (1p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.110799868C>G
GRCh38.p7 chr 1NC_000001.11:g.110799868C>T
GRCh37.p13 chr 1NC_000001.10:g.111342490C>G
GRCh37.p13 chr 1NC_000001.10:g.111342490C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.774T=0.226
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.900T=0.100
1000GenomesEuropeSub1006C=0.715T=0.285
1000GenomesGlobalStudy-wide5008C=0.773T=0.227
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.736T=0.264
The Genome Aggregation DatabaseAfricanSub8710C=0.757T=0.243
The Genome Aggregation DatabaseAmericanSub838C=0.770T=0.23,
The Genome Aggregation DatabaseEast AsianSub1604C=0.898T=0.102
The Genome Aggregation DatabaseEuropeSub18438C=0.741T=0.258
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.753T=0.246
The Genome Aggregation DatabaseOtherSub300C=0.610T=0.39,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.732T=0.267
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.721T=0.279
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
rs3438190.00000798alcoholismpha002893
rs3438190.000008alcohol dependence20201924
rs3438190.00015alcohol dependence(early age of onset)20201924

eQTL of rs343819 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 rs343819 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 )
chr18076502180765158E081-44855