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rs199472972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472972(C;C)
Make rs199472972(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951463
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472972
ebirs199472972
HLIrs199472972
Exacrs199472972
Varsomers199472972
Maprs199472972
PheGenIrs199472972
hapmaprs199472972
1000 genomesrs199472972
hgdprs199472972
ensemblrs199472972
gopubmedrs199472972
geneviewrs199472972
scholarrs199472972
googlers199472972
pharmgkbrs199472972
gwascentralrs199472972
openSNPrs199472972
23andMers199472972
23andMe allrs199472972
SNP Nexus

SNPshotrs199472972
SNPdbers199472972
MSV3drs199472972
GWAS Ctlgrs199472972
Max Magnitude0
ClinVar
Risk rs199472972(A,C,T;A,C,T)
Alt rs199472972(A,C,T;A,C,T)
Reference rs199472972(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.150648551C>A; NC_000007.13:g.150648551C>G
CLNSRC ClinVar
CLNACC RCV000058059.2, RCV000058058.2,