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rs199472973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472973(A;A)
Make rs199472973(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951458
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472973
ebirs199472973
HLIrs199472973
Exacrs199472973
Varsomers199472973
Maprs199472973
PheGenIrs199472973
hapmaprs199472973
1000 genomesrs199472973
hgdprs199472973
ensemblrs199472973
gopubmedrs199472973
geneviewrs199472973
scholarrs199472973
googlers199472973
pharmgkbrs199472973
gwascentralrs199472973
openSNPrs199472973
23andMers199472973
23andMe allrs199472973
SNP Nexus

SNPshotrs199472973
SNPdbers199472973
MSV3drs199472973
GWAS Ctlgrs199472973
Max Magnitude0
ClinVar
Risk rs199472973(A;A)
Alt rs199472973(A;A)
Reference rs199472973(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.150648546C>T
CLNSRC ClinVar
CLNACC RCV000058062.2,