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rs199473522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473522(A;A)
Make rs199473522(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951583
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473522
ebirs199473522
HLIrs199473522
Exacrs199473522
Varsomers199473522
Maprs199473522
PheGenIrs199473522
hapmaprs199473522
1000 genomesrs199473522
hgdprs199473522
ensemblrs199473522
gopubmedrs199473522
geneviewrs199473522
scholarrs199473522
googlers199473522
pharmgkbrs199473522
gwascentralrs199473522
openSNPrs199473522
23andMers199473522
23andMe allrs199473522
SNP Nexus

SNPshotrs199473522
SNPdbers199473522
MSV3drs199473522
GWAS Ctlgrs199473522
Max Magnitude0
ClinVar
Risk rs199473522(A;A)
Alt rs199473522(A;A)
Reference rs199473522(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648671C>T
CLNSRC ClinVar
CLNACC RCV000057997.2, RCV000181821.2, RCV000205578.1,