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rs199472833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472833(C;C)
Make rs199472833(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974926
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472833
ebirs199472833
HLIrs199472833
Exacrs199472833
Varsomers199472833
Maprs199472833
PheGenIrs199472833
hapmaprs199472833
1000 genomesrs199472833
hgdprs199472833
ensemblrs199472833
gopubmedrs199472833
geneviewrs199472833
scholarrs199472833
googlers199472833
pharmgkbrs199472833
gwascentralrs199472833
openSNPrs199472833
23andMers199472833
23andMe allrs199472833
SNP Nexus

SNPshotrs199472833
SNPdbers199472833
MSV3drs199472833
GWAS Ctlgrs199472833
Max Magnitude0
ClinVar
Risk rs199472833(C,G;C,G)
Alt rs199472833(C,G;C,G)
Reference rs199472833(T;T)
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.150672014A>C; NC_000007.13:g.150672014A>G
CLNSRC ClinVar
CLNACC RCV000058275.2, RCV000058274.2, RCV000181922.1,