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rs199473520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473520(C;C)
Make rs199473520(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951688
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473520
ebirs199473520
HLIrs199473520
Exacrs199473520
Varsomers199473520
Maprs199473520
PheGenIrs199473520
hapmaprs199473520
1000 genomesrs199473520
hgdprs199473520
ensemblrs199473520
gopubmedrs199473520
geneviewrs199473520
scholarrs199473520
googlers199473520
pharmgkbrs199473520
gwascentralrs199473520
openSNPrs199473520
23andMers199473520
23andMe allrs199473520
SNP Nexus

SNPshotrs199473520
SNPdbers199473520
MSV3drs199473520
GWAS Ctlgrs199473520
Max Magnitude0
ClinVar
Risk rs199473520(C;C)
Alt rs199473520(C;C)
Reference rs199473520(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.150648776A>G
CLNSRC ClinVar
CLNACC RCV000057956.2,