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rs199473545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473545(C;T)
Make rs199473545(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150946929
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473545
ebirs199473545
HLIrs199473545
Exacrs199473545
Varsomers199473545
Maprs199473545
PheGenIrs199473545
hapmaprs199473545
1000 genomesrs199473545
hgdprs199473545
ensemblrs199473545
gopubmedrs199473545
geneviewrs199473545
scholarrs199473545
googlers199473545
pharmgkbrs199473545
gwascentralrs199473545
openSNPrs199473545
23andMers199473545
23andMe allrs199473545
SNP Nexus

SNPshotrs199473545
SNPdbers199473545
MSV3drs199473545
GWAS Ctlgrs199473545
Max Magnitude0
ClinVar
Risk rs199473545(G,T;G,T)
Alt rs199473545(G,T;G,T)
Reference rs199473545(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000007.13:g.150644017G>A
CLNSRC ClinVar
CLNACC RCV000058214.2, RCV000223703.1,