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rs794728455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;G) 4 Potential cardiac arrhythmia, or, Long QT syndrome
Make rs794728455(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150947795
GeneKCNH2
is asnp
is mentioned by
dbSNPrs794728455
ClinGenrs794728455
ebirs794728455
HLIrs794728455
Exacrs794728455
Varsomers794728455
Maprs794728455
PheGenIrs794728455
hapmaprs794728455
1000 genomesrs794728455
hgdprs794728455
ensemblrs794728455
gopubmedrs794728455
geneviewrs794728455
scholarrs794728455
googlers794728455
pharmgkbrs794728455
gwascentralrs794728455
openSNPrs794728455
23andMers794728455
23andMe allrs794728455
SNP Nexus

SNPshotrs794728455
SNPdbers794728455
MSV3drs794728455
GWAS Ctlgrs794728455
Max Magnitude4

c.2775dupG (p.Pro926Alafs)

Designated in ClinVar by a single source as pathogenic for an unspecified "cardiac phenotype". Most clinically significant KCNH2 gene mutations are dominantly inherited mutations leading to Long QT syndrome, but the "cardiac phenotype" designation could also refer to a cardiac arrhythmia.

ClinVar
Risk rs794728455(G;G)
Alt rs794728455(G;G)
Reference Rs794728455(-;-)
Significance Pathogenic
Disease not provided Long QT syndrome Cardiovascular phenotype
Variation info
Gene KCNH2
CLNDBN not provided Long QT syndrome Cardiovascular phenotype
Reversed 1
HGVS NC_000007.13:g.150644884dupC
CLNSRC
CLNACC RCV000181993.3, RCV000204205.3, RCV000249424.1,