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rs199473542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473542(A;A)
Make rs199473542(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947460
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473542
ebirs199473542
HLIrs199473542
Exacrs199473542
Varsomers199473542
Maprs199473542
PheGenIrs199473542
hapmaprs199473542
1000 genomesrs199473542
hgdprs199473542
ensemblrs199473542
gopubmedrs199473542
geneviewrs199473542
scholarrs199473542
googlers199473542
pharmgkbrs199473542
gwascentralrs199473542
openSNPrs199473542
23andMers199473542
23andMe allrs199473542
SNP Nexus

SNPshotrs199473542
SNPdbers199473542
MSV3drs199473542
GWAS Ctlgrs199473542
Max Magnitude0
ClinVar
Risk rs199473542(A,T;A,T)
Alt rs199473542(A,T;A,T)
Reference rs199473542(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.150644548C>T
CLNSRC ClinVar
CLNACC RCV000058191.2,