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rs199472842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472842(C;C)
Make rs199472842(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974861
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472842
ebirs199472842
HLIrs199472842
Exacrs199472842
Varsomers199472842
Maprs199472842
PheGenIrs199472842
hapmaprs199472842
1000 genomesrs199472842
hgdprs199472842
ensemblrs199472842
gopubmedrs199472842
geneviewrs199472842
scholarrs199472842
googlers199472842
pharmgkbrs199472842
gwascentralrs199472842
openSNPrs199472842
23andMers199472842
23andMe allrs199472842
SNP Nexus

SNPshotrs199472842
SNPdbers199472842
MSV3drs199472842
GWAS Ctlgrs199472842
Max Magnitude0
ClinVar
Risk rs199472842(A,C;A,C)
Alt rs199472842(A,C;A,C)
Reference rs199472842(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.150671949C>G; NC_000007.13:g.150671949C>T
CLNSRC ClinVar
CLNACC RCV000057924.2, RCV000057923.2,