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rs199472941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472941(A;A)
Make rs199472941(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951568
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472941
ebirs199472941
HLIrs199472941
Exacrs199472941
Varsomers199472941
Maprs199472941
PheGenIrs199472941
hapmaprs199472941
1000 genomesrs199472941
hgdprs199472941
ensemblrs199472941
gopubmedrs199472941
geneviewrs199472941
scholarrs199472941
googlers199472941
pharmgkbrs199472941
gwascentralrs199472941
openSNPrs199472941
23andMers199472941
23andMe allrs199472941
SNP Nexus

SNPshotrs199472941
SNPdbers199472941
MSV3drs199472941
GWAS Ctlgrs199472941
Max Magnitude0
ClinVar
Risk rs199472941(A,C,T;A,C,T)
Alt rs199472941(A,C,T;A,C,T)
Reference rs199472941(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.150648656C>A; NC_000007.13:g.150648656C>G; NC_000007.13:g.150648656C>T
CLNSRC ClinVar
CLNACC RCV000058004.2, RCV000058003.2, RCV000058002.2,