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rs199473513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473513(A;G)
Make rs199473513(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952480
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473513
ebirs199473513
HLIrs199473513
Exacrs199473513
Varsomers199473513
Maprs199473513
PheGenIrs199473513
hapmaprs199473513
1000 genomesrs199473513
hgdprs199473513
ensemblrs199473513
gopubmedrs199473513
geneviewrs199473513
scholarrs199473513
googlers199473513
pharmgkbrs199473513
gwascentralrs199473513
openSNPrs199473513
23andMers199473513
23andMe allrs199473513
SNP Nexus

SNPshotrs199473513
SNPdbers199473513
MSV3drs199473513
GWAS Ctlgrs199473513
Max Magnitude0
ClinVar
Risk rs199473513(G;G)
Alt rs199473513(G;G)
Reference rs199473513(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150649568T>C
CLNSRC ClinVar
CLNACC RCV000057919.2, RCV000181795.1,