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rs199472824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472824(C;C)
Make rs199472824(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585227
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472824
ebirs199472824
HLIrs199472824
Exacrs199472824
Varsomers199472824
Maprs199472824
PheGenIrs199472824
hapmaprs199472824
1000 genomesrs199472824
hgdprs199472824
ensemblrs199472824
gopubmedrs199472824
geneviewrs199472824
scholarrs199472824
googlers199472824
pharmgkbrs199472824
gwascentralrs199472824
openSNPrs199472824
23andMers199472824
23andMe allrs199472824
SNP Nexus

SNPshotrs199472824
SNPdbers199472824
MSV3drs199472824
GWAS Ctlgrs199472824
Max Magnitude0
ClinVar
Risk rs199472824(A,C;A,C)
Alt rs199472824(A,C;A,C)
Reference rs199472824(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2606457G>A; NC_000011.9:g.2606457G>C
CLNSRC ClinVar
CLNACC RCV000057539.2, RCV000045947.2, RCV000057540.2,