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rs199473427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473427(A;G)
Make rs199473427(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951646
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473427
ebirs199473427
HLIrs199473427
Exacrs199473427
Varsomers199473427
Maprs199473427
PheGenIrs199473427
hapmaprs199473427
1000 genomesrs199473427
hgdprs199473427
ensemblrs199473427
gopubmedrs199473427
geneviewrs199473427
scholarrs199473427
googlers199473427
pharmgkbrs199473427
gwascentralrs199473427
openSNPrs199473427
23andMers199473427
23andMe allrs199473427
SNP Nexus

SNPshotrs199473427
SNPdbers199473427
MSV3drs199473427
GWAS Ctlgrs199473427
Max Magnitude0
ClinVar
Risk rs199473427(G;G)
Alt rs199473427(G;G)
Reference rs199473427(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648734T>C
CLNSRC ClinVar
CLNACC RCV000057972.2,