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rs199472872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472872(C;G)
Make rs199472872(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958251
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472872
ebirs199472872
HLIrs199472872
Exacrs199472872
Varsomers199472872
Maprs199472872
PheGenIrs199472872
hapmaprs199472872
1000 genomesrs199472872
hgdprs199472872
ensemblrs199472872
gopubmedrs199472872
geneviewrs199472872
scholarrs199472872
googlers199472872
pharmgkbrs199472872
gwascentralrs199472872
openSNPrs199472872
23andMers199472872
23andMe allrs199472872
SNP Nexus

SNPshotrs199472872
SNPdbers199472872
MSV3drs199472872
GWAS Ctlgrs199472872
Max Magnitude0
ClinVar
Risk rs199472872(G;G)
Alt rs199472872(G;G)
Reference rs199472872(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.150655339G>C
CLNSRC ClinVar
CLNACC RCV000058250.2,