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rs199472752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472752(C;C)
Make rs199472752(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583467
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472752
ebirs199472752
HLIrs199472752
Exacrs199472752
Varsomers199472752
Maprs199472752
PheGenIrs199472752
hapmaprs199472752
1000 genomesrs199472752
hgdprs199472752
ensemblrs199472752
gopubmedrs199472752
geneviewrs199472752
scholarrs199472752
googlers199472752
pharmgkbrs199472752
gwascentralrs199472752
openSNPrs199472752
23andMers199472752
23andMe allrs199472752
SNP Nexus

SNPshotrs199472752
SNPdbers199472752
MSV3drs199472752
GWAS Ctlgrs199472752
Max Magnitude0
ClinVar
Risk rs199472752(C;C)
Alt rs199472752(C;C)
Reference rs199472752(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2604697G>C
CLNSRC ClinVar
CLNACC RCV000046178.2, RCV000057825.2, RCV000182142.1,