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rs199472928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472928(A;G)
Make rs199472928(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951682
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472928
ebirs199472928
HLIrs199472928
Exacrs199472928
Varsomers199472928
Maprs199472928
PheGenIrs199472928
hapmaprs199472928
1000 genomesrs199472928
hgdprs199472928
ensemblrs199472928
gopubmedrs199472928
geneviewrs199472928
scholarrs199472928
googlers199472928
pharmgkbrs199472928
gwascentralrs199472928
openSNPrs199472928
23andMers199472928
23andMe allrs199472928
SNP Nexus

SNPshotrs199472928
SNPdbers199472928
MSV3drs199472928
GWAS Ctlgrs199472928
Max Magnitude0
ClinVar
Risk rs199472928(C,G;C,G)
Alt rs199472928(C,G;C,G)
Reference rs199472928(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.150648770T>C; NC_000007.13:g.150648770T>G
CLNSRC ClinVar
CLNACC RCV000057958.2, RCV000057957.2,