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rs199472965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472965(C;G)
Make rs199472965(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951488
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472965
ebirs199472965
HLIrs199472965
Exacrs199472965
Varsomers199472965
Maprs199472965
PheGenIrs199472965
hapmaprs199472965
1000 genomesrs199472965
hgdprs199472965
ensemblrs199472965
gopubmedrs199472965
geneviewrs199472965
scholarrs199472965
googlers199472965
pharmgkbrs199472965
gwascentralrs199472965
openSNPrs199472965
23andMers199472965
23andMe allrs199472965
SNP Nexus

SNPshotrs199472965
SNPdbers199472965
MSV3drs199472965
GWAS Ctlgrs199472965
Max Magnitude0
ClinVar
Risk rs199472965(G;G)
Alt rs199472965(G;G)
Reference rs199472965(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648576G>C
CLNSRC ClinVar
CLNACC RCV000058047.2,