rs1991718

Homo sapiens
C>T
KCNQ3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0448 (13419/29918,GnomAD)
C==0443 (12903/29118,TOPMED)
T=0480 (2406/5008,1000G)
T=0445 (2033/4566,GO-ESP)
C==0476 (1835/3854,ALSPAC)
C==0473 (1753/3708,TWINSUK)
chr8:132149077 (GRCh38.p7) (8q24.22)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.132149077C>T
GRCh37.p13 chr 8NC_000008.10:g.133161324C>T
KCNQ3 RefSeqGeneNG_008854.2:g.336681G>A

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
1000GenomesAfricanSub1322C=0.393T=0.607
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.539T=0.461
1000GenomesEuropeSub1006C=0.438T=0.562
1000GenomesGlobalStudy-wide5008C=0.520T=0.480
1000GenomesSouth AsianSub978C=0.750T=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.476T=0.524
The Genome Aggregation DatabaseAfricanSub8704C=0.404T=0.596
The Genome Aggregation DatabaseAmericanSub838C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1616C=0.475T=0.525
The Genome Aggregation DatabaseEuropeSub18458C=0.463T=0.536
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.448T=0.551
The Genome Aggregation DatabaseOtherSub302C=0.610T=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.443T=0.556
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.473T=0.527
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
rs19917180.000016alcohol craving with or without dependence22481050
rs19917180.000807alcohol dependence20201924

eQTL of rs1991718 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 rs1991718 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 )
chr8133155063133156012E067-5312
chr8133183486133183561E06722162
chr8133204091133204235E06742767
chr8133204247133204773E06742923
chr8133205083133205133E06743759
chr8133205821133205927E06744497
chr8133206075133206340E06744751
chr8133154941133155062E068-6262
chr8133155063133156012E068-5312
chr8133180311133180351E06818987
chr8133180368133180425E06819044
chr8133203957133204002E06842633
chr8133204091133204235E06842767
chr8133204247133204773E06842923
chr8133204091133204235E06942767
chr8133204247133204773E06942923
chr8133205552133205729E06944228
chr8133179611133179671E07018287
chr8133179768133180177E07018444
chr8133179611133179671E07118287
chr8133179768133180177E07118444
chr8133193752133194010E07132428
chr8133204091133204235E07142767
chr8133204247133204773E07142923
chr8133205083133205133E07143759
chr8133205210133205437E07143886
chr8133205552133205729E07144228
chr8133205821133205927E07144497
chr8133206075133206340E07144751
chr8133154941133155062E072-6262
chr8133205210133205437E07243886
chr8133205552133205729E07244228
chr8133205821133205927E07244497
chr8133206075133206340E07244751
chr8133154941133155062E073-6262
chr8133155063133156012E073-5312
chr8133204091133204235E07342767
chr8133204247133204773E07342923
chr8133179768133180177E07418444
chr8133147688133148059E081-13265
chr8133148707133148765E081-12559
chr8133148767133148822E081-12502
chr8133178751133178801E08117427
chr8133203957133204002E08142633
chr8133204091133204235E08142767
chr8133204247133204773E08142923
chr8133205083133205133E08143759
chr8133205210133205437E08143886
chr8133205552133205729E08144228
chr8133205821133205927E08144497
chr8133206075133206340E08144751
chr8133206491133206622E08145167
chr8133206738133206998E08145414
chr8133198471133198521E08237147
chr8133205083133205133E08243759
chr8133205210133205437E08243886
chr8133205552133205729E08244228
chr8133205821133205927E08244497
chr8133206075133206340E08244751
chr8133206491133206622E08245167
chr8133206738133206998E08245414