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rs199472985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472985(C;T)
Make rs199472985(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950949
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472985
ebirs199472985
HLIrs199472985
Exacrs199472985
Varsomers199472985
Maprs199472985
PheGenIrs199472985
hapmaprs199472985
1000 genomesrs199472985
hgdprs199472985
ensemblrs199472985
gopubmedrs199472985
geneviewrs199472985
scholarrs199472985
googlers199472985
pharmgkbrs199472985
gwascentralrs199472985
openSNPrs199472985
23andMers199472985
23andMe allrs199472985
SNP Nexus

SNPshotrs199472985
SNPdbers199472985
MSV3drs199472985
GWAS Ctlgrs199472985
Max Magnitude0
ClinVar
Risk rs199472985(G,T;G,T)
Alt rs199472985(G,T;G,T)
Reference rs199472985(C;C)
Significance Pathogenic
Disease Acquired long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Acquired long QT syndrome Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648037G>A; NC_000007.13:g.150648037G>C
CLNSRC ClinVar
CLNACC RCV000058085.2, RCV000058084.2,