rs2469518

Homo sapiens
G>A
KCNQ3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0464 (13908/29920,GnomAD)
G==0461 (13450/29118,TOPMED)
A=0474 (2374/5008,1000G)
G==0491 (1894/3854,ALSPAC)
G==0490 (1817/3708,TWINSUK)
chr8:132144220 (GRCh38.p7) (8q24.22)
AD
GWASdb2
1   publication(s)
See rs on genome
57 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.132144220G>A
GRCh37.p13 chr 8NC_000008.10:g.133156467G>A
KCNQ3 RefSeqGeneNG_008854.2:g.341538C>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=0.411A=0.589
1000GenomesAmericanSub694G=0.520A=0.480
1000GenomesEast AsianSub1008G=0.537A=0.463
1000GenomesEuropeSub1006G=0.452A=0.548
1000GenomesGlobalStudy-wide5008G=0.526A=0.474
1000GenomesSouth AsianSub978G=0.750A=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.491A=0.509
The Genome Aggregation DatabaseAfricanSub8710G=0.426A=0.574
The Genome Aggregation DatabaseAmericanSub834G=0.460A=0.540
The Genome Aggregation DatabaseEast AsianSub1608G=0.479A=0.521
The Genome Aggregation DatabaseEuropeSub18466G=0.479A=0.520
The Genome Aggregation DatabaseGlobalStudy-wide29920G=0.464A=0.535
The Genome Aggregation DatabaseOtherSub302G=0.610A=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.461A=0.538
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.490A=0.510
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs24695187.06E-06alcohol craving with or without dependence22481050

eQTL of rs2469518 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 rs2469518 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 )
chr8133155063133156012E067-455
chr8133183486133183561E06727019
chr8133204091133204235E06747624
chr8133204247133204773E06747780
chr8133205083133205133E06748616
chr8133205821133205927E06749354
chr8133206075133206340E06749608
chr8133154941133155062E068-1405
chr8133155063133156012E068-455
chr8133180311133180351E06823844
chr8133180368133180425E06823901
chr8133203957133204002E06847490
chr8133204091133204235E06847624
chr8133204247133204773E06847780
chr8133204091133204235E06947624
chr8133204247133204773E06947780
chr8133205552133205729E06949085
chr8133179611133179671E07023144
chr8133179768133180177E07023301
chr8133179611133179671E07123144
chr8133179768133180177E07123301
chr8133193752133194010E07137285
chr8133204091133204235E07147624
chr8133204247133204773E07147780
chr8133205083133205133E07148616
chr8133205210133205437E07148743
chr8133205552133205729E07149085
chr8133205821133205927E07149354
chr8133206075133206340E07149608
chr8133154941133155062E072-1405
chr8133205210133205437E07248743
chr8133205552133205729E07249085
chr8133205821133205927E07249354
chr8133206075133206340E07249608
chr8133154941133155062E073-1405
chr8133155063133156012E073-455
chr8133204091133204235E07347624
chr8133204247133204773E07347780
chr8133179768133180177E07423301
chr8133147688133148059E081-8408
chr8133148707133148765E081-7702
chr8133148767133148822E081-7645
chr8133178751133178801E08122284
chr8133203957133204002E08147490
chr8133204091133204235E08147624
chr8133204247133204773E08147780
chr8133205083133205133E08148616
chr8133205210133205437E08148743
chr8133205552133205729E08149085
chr8133205821133205927E08149354
chr8133206075133206340E08149608
chr8133198471133198521E08242004
chr8133205083133205133E08248616
chr8133205210133205437E08248743
chr8133205552133205729E08249085
chr8133205821133205927E08249354
chr8133206075133206340E08249608