rs1595411

Homo sapiens
G>A
KCNQ3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0447 (13384/29896,GnomAD)
G==0442 (12878/29118,TOPMED)
A=0482 (2416/5008,1000G)
A=0444 (2026/4566,GO-ESP)
G==0474 (1828/3854,ALSPAC)
G==0472 (1751/3708,TWINSUK)
chr8:132147178 (GRCh38.p7) (8q24.22)
AD
GWASdb2
2   publication(s)
See rs on genome
61 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.132147178G>A
GRCh37.p13 chr 8NC_000008.10:g.133159425G>A
KCNQ3 RefSeqGeneNG_008854.2:g.338580C>T

Gene: KCNQ3, potassium voltage-gated channel subfamily Q member 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNQ3 transcript variant 2NM_001204824.1:c.N/AIntron Variant
KCNQ3 transcript variant 1NM_004519.3:c.N/AIntron Variant
KCNQ3 transcript variant X4XM_005250914.3:c.N/AIntron Variant
KCNQ3 transcript variant X3XM_006716555.3:c.N/AIntron Variant
KCNQ3 transcript variant X2XM_011517026.2:c.N/AIntron Variant
KCNQ3 transcript variant X1XM_017013400.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.393A=0.607
1000GenomesAmericanSub694G=0.520A=0.480
1000GenomesEast AsianSub1008G=0.537A=0.463
1000GenomesEuropeSub1006G=0.434A=0.566
1000GenomesGlobalStudy-wide5008G=0.518A=0.482
1000GenomesSouth AsianSub978G=0.750A=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.474A=0.526
The Genome Aggregation DatabaseAfricanSub8700G=0.405A=0.595
The Genome Aggregation DatabaseAmericanSub834G=0.470A=0.530
The Genome Aggregation DatabaseEast AsianSub1610G=0.474A=0.526
The Genome Aggregation DatabaseEuropeSub18450G=0.461A=0.538
The Genome Aggregation DatabaseGlobalStudy-wide29896G=0.447A=0.552
The Genome Aggregation DatabaseOtherSub302G=0.610A=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.442A=0.557
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.472A=0.528
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs15954110.0000312alcohol craving with or without dependence22481050
rs15954110.000589alcohol dependence20201924

eQTL of rs1595411 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 rs1595411 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 )
chr8133155063133156012E067-3413
chr8133183486133183561E06724061
chr8133204091133204235E06744666
chr8133204247133204773E06744822
chr8133205083133205133E06745658
chr8133205821133205927E06746396
chr8133206075133206340E06746650
chr8133154941133155062E068-4363
chr8133155063133156012E068-3413
chr8133180311133180351E06820886
chr8133180368133180425E06820943
chr8133203957133204002E06844532
chr8133204091133204235E06844666
chr8133204247133204773E06844822
chr8133204091133204235E06944666
chr8133204247133204773E06944822
chr8133205552133205729E06946127
chr8133179611133179671E07020186
chr8133179768133180177E07020343
chr8133179611133179671E07120186
chr8133179768133180177E07120343
chr8133193752133194010E07134327
chr8133204091133204235E07144666
chr8133204247133204773E07144822
chr8133205083133205133E07145658
chr8133205210133205437E07145785
chr8133205552133205729E07146127
chr8133205821133205927E07146396
chr8133206075133206340E07146650
chr8133154941133155062E072-4363
chr8133205210133205437E07245785
chr8133205552133205729E07246127
chr8133205821133205927E07246396
chr8133206075133206340E07246650
chr8133154941133155062E073-4363
chr8133155063133156012E073-3413
chr8133204091133204235E07344666
chr8133204247133204773E07344822
chr8133179768133180177E07420343
chr8133147688133148059E081-11366
chr8133148707133148765E081-10660
chr8133148767133148822E081-10603
chr8133178751133178801E08119326
chr8133203957133204002E08144532
chr8133204091133204235E08144666
chr8133204247133204773E08144822
chr8133205083133205133E08145658
chr8133205210133205437E08145785
chr8133205552133205729E08146127
chr8133205821133205927E08146396
chr8133206075133206340E08146650
chr8133206491133206622E08147066
chr8133206738133206998E08147313
chr8133198471133198521E08239046
chr8133205083133205133E08245658
chr8133205210133205437E08245785
chr8133205552133205729E08246127
chr8133205821133205927E08246396
chr8133206075133206340E08246650
chr8133206491133206622E08247066
chr8133206738133206998E08247313