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rs199473423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473423(A;A)
Make rs199473423(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951678
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473423
ebirs199473423
HLIrs199473423
Exacrs199473423
Varsomers199473423
Maprs199473423
PheGenIrs199473423
hapmaprs199473423
1000 genomesrs199473423
hgdprs199473423
ensemblrs199473423
gopubmedrs199473423
geneviewrs199473423
scholarrs199473423
googlers199473423
pharmgkbrs199473423
gwascentralrs199473423
openSNPrs199473423
23andMers199473423
23andMe allrs199473423
SNP Nexus

SNPshotrs199473423
SNPdbers199473423
MSV3drs199473423
GWAS Ctlgrs199473423
Max Magnitude0
ClinVar
Risk rs199473423(A,T;A,T)
Alt rs199473423(A,T;A,T)
Reference rs199473423(G;G)
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.150648766C>A; NC_000007.13:g.150648766C>T
CLNSRC ClinVar
CLNACC RCV000057963.2, RCV000181812.1, RCV000057962.2,