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rs199472967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472967(A;G)
Make rs199472967(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951483
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472967
ebirs199472967
HLIrs199472967
Exacrs199472967
Varsomers199472967
Maprs199472967
PheGenIrs199472967
hapmaprs199472967
1000 genomesrs199472967
hgdprs199472967
ensemblrs199472967
gopubmedrs199472967
geneviewrs199472967
scholarrs199472967
googlers199472967
pharmgkbrs199472967
gwascentralrs199472967
openSNPrs199472967
23andMers199472967
23andMe allrs199472967
SNP Nexus

SNPshotrs199472967
SNPdbers199472967
MSV3drs199472967
GWAS Ctlgrs199472967
Max Magnitude0
ClinVar
Risk rs199472967(G;G)
Alt rs199472967(G;G)
Reference rs199472967(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648571T>C
CLNSRC ClinVar
CLNACC RCV000058049.2,