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rs199472844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472844(C;T)
Make rs199472844(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974854
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472844
ebirs199472844
HLIrs199472844
Exacrs199472844
Varsomers199472844
Maprs199472844
PheGenIrs199472844
hapmaprs199472844
1000 genomesrs199472844
hgdprs199472844
ensemblrs199472844
gopubmedrs199472844
geneviewrs199472844
scholarrs199472844
googlers199472844
pharmgkbrs199472844
gwascentralrs199472844
openSNPrs199472844
23andMers199472844
23andMe allrs199472844
SNP Nexus

SNPshotrs199472844
SNPdbers199472844
MSV3drs199472844
GWAS Ctlgrs199472844
Max Magnitude0
ClinVar
Risk rs199472844(T;T)
Alt rs199472844(T;T)
Reference rs199472844(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150671942G>A
CLNSRC ClinVar
CLNACC RCV000057933.2, RCV000182049.1,