rs1501551

Homo sapiens
C>T
KCNH1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0450 (13463/29858,GnomAD)
T=0421 (12262/29116,TOPMED)
T=0426 (2131/5008,1000G)
T=0492 (1895/3854,ALSPAC)
T=0483 (1791/3708,TWINSUK)
chr1:211003580 (GRCh38.p7) (1q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.211003580C>T
GRCh37.p13 chr 1NC_000001.10:g.211176922C>T
KCNH1 RefSeqGeneNG_029777.1:g.135536G>A

Gene: KCNH1, potassium voltage-gated channel subfamily H member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNH1 transcript variant 2NM_002238.3:c.N/AIntron Variant
KCNH1 transcript variant 1NM_172362.2:c.N/AIntron Variant
KCNH1 transcript variant X1XM_017001246.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.694T=0.306
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.638T=0.362
1000GenomesEuropeSub1006C=0.517T=0.483
1000GenomesGlobalStudy-wide5008C=0.574T=0.426
1000GenomesSouth AsianSub978C=0.420T=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.508T=0.492
The Genome Aggregation DatabaseAfricanSub8686C=0.672T=0.328
The Genome Aggregation DatabaseAmericanSub836C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1620C=0.684T=0.316
The Genome Aggregation DatabaseEuropeSub18414C=0.478T=0.521
The Genome Aggregation DatabaseGlobalStudy-wide29858C=0.549T=0.450
The Genome Aggregation DatabaseOtherSub302C=0.510T=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.578T=0.421
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.517T=0.483
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs15015510.000618alcohol dependence20201924

eQTL of rs1501551 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 rs1501551 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 )
chr1211186779211186901E0679857
chr1211210446211210807E06733524
chr1211210872211211043E06733950
chr1211209852211210361E06832930
chr1211210446211210807E06833524
chr1211210872211211043E06833950
chr1211210446211210807E07133524
chr1211187460211187525E07210538
chr1211207736211207786E08130814