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rs199472743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472743(C;G)
Make rs199472743(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583439
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472743
dbSNP (old)rs199472743
ClinGenrs199472743
ebirs199472743
HLIrs199472743
Exacrs199472743
Gnomadrs199472743
Varsomers199472743
Maprs199472743
PheGenIrs199472743
Biobankrs199472743
1000 genomesrs199472743
hgdprs199472743
ensemblrs199472743
gopubmedrs199472743
geneviewrs199472743
scholarrs199472743
googlers199472743
pharmgkbrs199472743
gwascentralrs199472743
openSNPrs199472743
23andMers199472743
23andMe allrs199472743
SNP Nexus

SNPshotrs199472743
SNPdbers199472743
MSV3drs199472743
GWAS Ctlgrs199472743
Max Magnitude0
ClinVar
Risk rs199472743(G;G) rs199472743(T;T)
Alt rs199472743(G;G) rs199472743(T;T)
Reference Rs199472743(C;C)
Significance Untested
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2604669C>G; NC_000011.9:g.2604669C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000046161.2, RCV000057802.3, RCV000046162.2, RCV000057803.3,