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rs199473504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473504(A;A)
Make rs199473504(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150957479
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473504
ebirs199473504
HLIrs199473504
Exacrs199473504
Varsomers199473504
Maprs199473504
PheGenIrs199473504
hapmaprs199473504
1000 genomesrs199473504
hgdprs199473504
ensemblrs199473504
gopubmedrs199473504
geneviewrs199473504
scholarrs199473504
googlers199473504
pharmgkbrs199473504
gwascentralrs199473504
openSNPrs199473504
23andMers199473504
23andMe allrs199473504
SNP Nexus

SNPshotrs199473504
SNPdbers199473504
MSV3drs199473504
GWAS Ctlgrs199473504
Max Magnitude0
ClinVar
Risk rs199473504(A;A)
Alt rs199473504(A;A)
Reference rs199473504(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.150654567C>T
CLNSRC ClinVar
CLNACC RCV000058277.2,