rs1353812

Homo sapiens
A>C / A>T
KCNAB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0321 (9624/29920,GnomAD)
A==0352 (10257/29118,TOPMED)
A==0328 (1641/5008,1000G)
A==0277 (1067/3854,ALSPAC)
A==0279 (1035/3708,TWINSUK)
chr3:156189951 (GRCh38.p7) (3q25.31)
ND
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.156189951A>C
GRCh38.p7 chr 3NC_000003.12:g.156189951A>T
GRCh37.p13 chr 3NC_000003.11:g.155907740A>C
GRCh37.p13 chr 3NC_000003.11:g.155907740A>T
KCNAB1 RefSeqGeneNG_042292.1:g.74404A>C
KCNAB1 RefSeqGeneNG_042292.1:g.74404A>T

Gene: KCNAB1, potassium voltage-gated channel subfamily A member regulatory beta subunit 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNAB1 transcript variant 4NM_001308217.1:c.N/AIntron Variant
KCNAB1 transcript variant 2NM_003471.3:c.N/AIntron Variant
KCNAB1 transcript variant 1NM_172160.2:c.N/AIntron Variant
KCNAB1 transcript variant 5NM_001308222.1:c.N/AGenic Upstream Transcript Variant
KCNAB1 transcript variant 3NM_172159.3:c.N/AGenic Upstream Transcript Variant
KCNAB1 transcript variant X1XM_017007171.1:c.N/AIntron Variant
KCNAB1 transcript variant X7XM_017007174.1:c.N/AIntron Variant
KCNAB1 transcript variant X2XM_011513115.2:c.N/AGenic Upstream Transcript Variant
KCNAB1 transcript variant X3XM_011513116.2:c.N/AGenic Upstream Transcript Variant
KCNAB1 transcript variant X6XM_011513117.2:c.N/AGenic Upstream Transcript Variant
KCNAB1 transcript variant X4XM_017007172.1:c.N/AGenic Upstream Transcript Variant
KCNAB1 transcript variant X5XM_017007173.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.463C=0.537
1000GenomesAmericanSub694A=0.220C=0.780
1000GenomesEast AsianSub1008A=0.118C=0.882
1000GenomesEuropeSub1006A=0.302C=0.698
1000GenomesGlobalStudy-wide5008A=0.328C=0.672
1000GenomesSouth AsianSub978A=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.277C=0.723
The Genome Aggregation DatabaseAfricanSub8700A=0.453C=0.547
The Genome Aggregation DatabaseAmericanSub838A=0.180C=0.82,
The Genome Aggregation DatabaseEast AsianSub1618A=0.102C=0.898
The Genome Aggregation DatabaseEuropeSub18464A=0.285C=0.714
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.321C=0.678
The Genome Aggregation DatabaseOtherSub300A=0.310C=0.69,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.352C=0.647
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.279C=0.721
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs13538120.000555nicotine smoking19268276

eQTL of rs1353812 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 rs1353812 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 )
chr3167079142167079537E068-1180
chr3167079142167079537E074-1180
chr3167073203167073555E081-7162
chr3167098827167098890E08118110
chr3167101558167101731E08120841
chr3167115705167115933E08134988



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3167097785167098506E06717068
chr3167097785167098506E06817068
chr3167097785167098506E06917068
chr3167097785167098506E07017068
chr3167097785167098506E07117068
chr3167097785167098506E07217068
chr3167097785167098506E07317068
chr3167097785167098506E07417068
chr3167097785167098506E08217068