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rs199472714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472714(C;C)
Make rs199472714(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572073
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472714
ebirs199472714
HLIrs199472714
Exacrs199472714
Varsomers199472714
Maprs199472714
PheGenIrs199472714
hapmaprs199472714
1000 genomesrs199472714
hgdprs199472714
ensemblrs199472714
gopubmedrs199472714
geneviewrs199472714
scholarrs199472714
googlers199472714
pharmgkbrs199472714
gwascentralrs199472714
openSNPrs199472714
23andMers199472714
23andMe allrs199472714
SNP Nexus

SNPshotrs199472714
SNPdbers199472714
MSV3drs199472714
GWAS Ctlgrs199472714
Max Magnitude0
ClinVar
Risk rs199472714(C;C)
Alt rs199472714(C;C)
Reference rs199472714(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2593303G>C
CLNSRC ClinVar
CLNACC RCV000057745.2,