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rs1137617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 4 potential cardiac arrhythmia
(C;C) 0 common
(C;T) 0 common
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150951110
GeneKCNH2
is asnp
is mentioned by
dbSNPrs1137617
ebirs1137617
HLIrs1137617
Exacrs1137617
Varsomers1137617
Maprs1137617
PheGenIrs1137617
hapmaprs1137617
1000 genomesrs1137617
hgdprs1137617
ensemblrs1137617
gopubmedrs1137617
geneviewrs1137617
scholarrs1137617
googlers1137617
pharmgkbrs1137617
gwascentralrs1137617
openSNPrs1137617
23andMers1137617
23andMe allrs1137617
SNP Nexus

SNPshotrs1137617
SNPdbers1137617
MSV3drs1137617
GWAS Ctlgrs1137617
Max Magnitude4

rs1137617 represents a variant in the KCNH2 gene on chromosome 7.

There are several reported alleles for this SNP. The rs1137617(C) and (T) alleles, as reported in the dbSNP/minus orientation, are both common and encode the same amino acid (tyrosine; TYR).

However, the rs1137617(A) allele is a nonsense mutation, encoding a stop codon, and it is considered pathogenic for cardiac arrhythmia by a (single) source in ClinVar. This is potentially inherited in a dominant manner.


ClinVar
Risk rs1137617(A,C,G;A,C,G)
Alt rs1137617(A,C,G;A,C,G)
Reference rs1137617(T;T)
Significance Pathogenic
Disease not specified not provided
Variation info
Gene KCNH2
CLNDBN not specified not provided
Reversed 1
HGVS NC_000007.13:g.150648198A>G; NC_000007.13:g.150648198A>T
CLNSRC
CLNACC RCV000181727.1, RCV000181832.1,