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rs199472914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472914(C;C)
Make rs199472914(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951810
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472914
ebirs199472914
HLIrs199472914
Exacrs199472914
Varsomers199472914
Maprs199472914
PheGenIrs199472914
hapmaprs199472914
1000 genomesrs199472914
hgdprs199472914
ensemblrs199472914
gopubmedrs199472914
geneviewrs199472914
scholarrs199472914
googlers199472914
pharmgkbrs199472914
gwascentralrs199472914
openSNPrs199472914
23andMers199472914
23andMe allrs199472914
SNP Nexus

SNPshotrs199472914
SNPdbers199472914
MSV3drs199472914
GWAS Ctlgrs199472914
Max Magnitude0
ClinVar
Risk rs199472914(A,C;A,C)
Alt rs199472914(A,C;A,C)
Reference rs199472914(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Cardiac arrhythmia
Reversed 1
HGVS NC_000007.13:g.150648898C>G; NC_000007.13:g.150648898C>T
CLNSRC ClinVar
CLNACC RCV000057925.2, RCV000181799.1,