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rs199473040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473040(C;C)
Make rs199473040(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948501
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473040
ebirs199473040
HLIrs199473040
Exacrs199473040
Varsomers199473040
Maprs199473040
PheGenIrs199473040
hapmaprs199473040
1000 genomesrs199473040
hgdprs199473040
ensemblrs199473040
gopubmedrs199473040
geneviewrs199473040
scholarrs199473040
googlers199473040
pharmgkbrs199473040
gwascentralrs199473040
openSNPrs199473040
23andMers199473040
23andMe allrs199473040
SNP Nexus

SNPshotrs199473040
SNPdbers199473040
MSV3drs199473040
GWAS Ctlgrs199473040
Max Magnitude0
ClinVar
Risk rs199473040(C;C)
Alt rs199473040(C;C)
Reference rs199473040(G;G)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150645589C>G
CLNSRC ClinVar
CLNACC RCV000058146.2,