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rs199472929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472929(G;T)
Make rs199472929(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951624
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472929
ebirs199472929
HLIrs199472929
Exacrs199472929
Varsomers199472929
Maprs199472929
PheGenIrs199472929
hapmaprs199472929
1000 genomesrs199472929
hgdprs199472929
ensemblrs199472929
gopubmedrs199472929
geneviewrs199472929
scholarrs199472929
googlers199472929
pharmgkbrs199472929
gwascentralrs199472929
openSNPrs199472929
23andMers199472929
23andMe allrs199472929
SNP Nexus

SNPshotrs199472929
SNPdbers199472929
MSV3drs199472929
GWAS Ctlgrs199472929
Max Magnitude0
ClinVar
Risk rs199472929(T;T)
Alt rs199472929(T;T)
Reference rs199472929(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648712C>A
CLNSRC ClinVar
CLNACC RCV000057982.2,