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rs199472830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472830(A;A)
Make rs199472830(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974931
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472830
ebirs199472830
HLIrs199472830
Exacrs199472830
Varsomers199472830
Maprs199472830
PheGenIrs199472830
hapmaprs199472830
1000 genomesrs199472830
hgdprs199472830
ensemblrs199472830
gopubmedrs199472830
geneviewrs199472830
scholarrs199472830
googlers199472830
pharmgkbrs199472830
gwascentralrs199472830
openSNPrs199472830
23andMers199472830
23andMe allrs199472830
SNP Nexus

SNPshotrs199472830
SNPdbers199472830
MSV3drs199472830
GWAS Ctlgrs199472830
Max Magnitude0
ClinVar
Risk rs199472830(A;A)
Alt rs199472830(A;A)
Reference rs199472830(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150672019G>T
CLNSRC ClinVar
CLNACC RCV000058267.2,