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rs199472949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472949(C;G)
Make rs199472949(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951530
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472949
ebirs199472949
HLIrs199472949
Exacrs199472949
Varsomers199472949
Maprs199472949
PheGenIrs199472949
hapmaprs199472949
1000 genomesrs199472949
hgdprs199472949
ensemblrs199472949
gopubmedrs199472949
geneviewrs199472949
scholarrs199472949
googlers199472949
pharmgkbrs199472949
gwascentralrs199472949
openSNPrs199472949
23andMers199472949
23andMe allrs199472949
SNP Nexus

SNPshotrs199472949
SNPdbers199472949
MSV3drs199472949
GWAS Ctlgrs199472949
Max Magnitude0
ClinVar
Risk rs199472949(G;G)
Alt rs199472949(G;G)
Reference rs199472949(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.150648618G>C
CLNSRC ClinVar
CLNACC RCV000058018.2,