rs17803126

Homo sapiens
T>C
KCNC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0073 (2198/29992,GnomAD)
C=0076 (2230/29118,TOPMED)
C=0063 (317/5008,1000G)
C=0076 (293/3854,ALSPAC)
C=0085 (315/3708,TWINSUK)
chr12:75183086 (GRCh38.p7) (12q21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
63 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.75183086T>C
GRCh37.p13 chr 12NC_000012.11:g.75576866T>C

Gene: KCNC2, potassium voltage-gated channel subfamily C member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNC2 transcript variant 4NM_001260497.1:c.N/AIntron Variant
KCNC2 transcript variant 5NM_001260498.1:c.N/AIntron Variant
KCNC2 transcript variant 6NM_001260499.1:c.N/AIntron Variant
KCNC2 transcript variant 1NM_139136.3:c.N/AIntron Variant
KCNC2 transcript variant 2NM_139137.3:c.N/AIntron Variant
KCNC2 transcript variant 3NM_153748.2:c.N/AIntron Variant
KCNC2 transcript variant X7XM_005268855.3:c.N/AIntron Variant
KCNC2 transcript variant X1XM_006719382.3:c.N/AIntron Variant
KCNC2 transcript variant X4XM_006719383.3:c.N/AIntron Variant
KCNC2 transcript variant X2XM_006719384.3:c.N/AIntron Variant
KCNC2 transcript variant X3XM_006719385.3:c.N/AIntron Variant
KCNC2 transcript variant X6XM_017019282.1:c.N/AIntron Variant
KCNC2 transcript variant X8XM_006719390.3:c.N/AGenic Downstream Transcript Variant
KCNC2 transcript variant X5XR_001748695.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.964C=0.036
1000GenomesAmericanSub694T=0.840C=0.160
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.901C=0.099
1000GenomesGlobalStudy-wide5008T=0.937C=0.063
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.924C=0.076
The Genome Aggregation DatabaseAfricanSub8730T=0.958C=0.042
The Genome Aggregation DatabaseAmericanSub838T=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18500T=0.910C=0.089
The Genome Aggregation DatabaseGlobalStudy-wide29992T=0.926C=0.073
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.923C=0.076
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.915C=0.085
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs178031262.08E-05alcohol and nictotine co-dependence20158304

eQTL of rs17803126 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 rs17803126 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 )
chr127553299075533436E081-43430
chr127553357375533623E081-43243

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr127560036575600419E06723499
chr127560049375600543E06723627
chr127560105175601101E06724185
chr127560118675601250E06724320
chr127560135475601584E06724488
chr127560172575601859E06724859
chr127560188475602056E06725018
chr127560266675602915E06725800
chr127560295775603059E06726091
chr127560320675603567E06726340
chr127560266675602915E06825800
chr127560295775603059E06826091
chr127560320675603567E06826340
chr127560036575600419E06923499
chr127560049375600543E06923627
chr127560105175601101E06924185
chr127560118675601250E06924320
chr127560135475601584E06924488
chr127560172575601859E06924859
chr127560188475602056E06925018
chr127560266675602915E06925800
chr127560295775603059E06926091
chr127560320675603567E06926340
chr127560105175601101E07024185
chr127560118675601250E07024320
chr127560320675603567E07026340
chr127560036575600419E07123499
chr127560049375600543E07123627
chr127560105175601101E07124185
chr127560118675601250E07124320
chr127560188475602056E07125018
chr127560266675602915E07125800
chr127560295775603059E07126091
chr127560036575600419E07223499
chr127560049375600543E07223627
chr127560105175601101E07224185
chr127560118675601250E07224320
chr127560135475601584E07224488
chr127560172575601859E07224859
chr127560188475602056E07225018
chr127560266675602915E07225800
chr127560295775603059E07226091
chr127560320675603567E07226340
chr127560036575600419E07323499
chr127560049375600543E07323627
chr127560105175601101E07324185
chr127560118675601250E07324320
chr127560135475601584E07324488
chr127560172575601859E07324859
chr127560188475602056E07325018
chr127560266675602915E07325800
chr127560295775603059E07326091
chr127560320675603567E07326340
chr127560118675601250E07424320
chr127560135475601584E07424488
chr127560172575601859E07424859
chr127560036575600419E08223499
chr127560049375600543E08223627
chr127560105175601101E08224185
chr127560118675601250E08224320
chr127560135475601584E08224488
chr127560295775603059E08226091
chr127560320675603567E08226340