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rs199472975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472975(A;A)
Make rs199472975(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951451
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472975
ebirs199472975
HLIrs199472975
Exacrs199472975
Varsomers199472975
Maprs199472975
PheGenIrs199472975
hapmaprs199472975
1000 genomesrs199472975
hgdprs199472975
ensemblrs199472975
gopubmedrs199472975
geneviewrs199472975
scholarrs199472975
googlers199472975
pharmgkbrs199472975
gwascentralrs199472975
openSNPrs199472975
23andMers199472975
23andMe allrs199472975
SNP Nexus

SNPshotrs199472975
SNPdbers199472975
MSV3drs199472975
GWAS Ctlgrs199472975
Max Magnitude0
ClinVar
Risk rs199472975(A;A)
Alt rs199472975(A;A)
Reference rs199472975(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.150648539C>T
CLNSRC ClinVar
CLNACC RCV000058064.2,