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rs199473516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473516(G;T)
Make rs199473516(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951792
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473516
ebirs199473516
HLIrs199473516
Exacrs199473516
Varsomers199473516
Maprs199473516
PheGenIrs199473516
hapmaprs199473516
1000 genomesrs199473516
hgdprs199473516
ensemblrs199473516
gopubmedrs199473516
geneviewrs199473516
scholarrs199473516
googlers199473516
pharmgkbrs199473516
gwascentralrs199473516
openSNPrs199473516
23andMers199473516
23andMe allrs199473516
SNP Nexus

SNPshotrs199473516
SNPdbers199473516
MSV3drs199473516
GWAS Ctlgrs199473516
Max Magnitude0
ClinVar
Risk rs199473516(T;T)
Alt rs199473516(T;T)
Reference rs199473516(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.150648880C>A
CLNSRC ClinVar
CLNACC RCV000057930.2,