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rs199472853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472853(C;C)
Make rs199472853(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974731
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472853
ebirs199472853
HLIrs199472853
Exacrs199472853
Varsomers199472853
Maprs199472853
PheGenIrs199472853
hapmaprs199472853
1000 genomesrs199472853
hgdprs199472853
ensemblrs199472853
gopubmedrs199472853
geneviewrs199472853
scholarrs199472853
googlers199472853
pharmgkbrs199472853
gwascentralrs199472853
openSNPrs199472853
23andMers199472853
23andMe allrs199472853
SNP Nexus

SNPshotrs199472853
SNPdbers199472853
MSV3drs199472853
GWAS Ctlgrs199472853
Max Magnitude0
ClinVar
Risk rs199472853(C;C)
Alt rs199472853(C;C)
Reference rs199472853(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671819A>G
CLNSRC ClinVar
CLNACC RCV000058175.2,