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rs199473407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473407(G;T)
Make rs199473407(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585258
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473407
ebirs199473407
HLIrs199473407
Exacrs199473407
Varsomers199473407
Maprs199473407
PheGenIrs199473407
hapmaprs199473407
1000 genomesrs199473407
hgdprs199473407
ensemblrs199473407
gopubmedrs199473407
geneviewrs199473407
scholarrs199473407
googlers199473407
pharmgkbrs199473407
gwascentralrs199473407
openSNPrs199473407
23andMers199473407
23andMe allrs199473407
SNP Nexus

SNPshotrs199473407
SNPdbers199473407
MSV3drs199473407
GWAS Ctlgrs199473407
Max Magnitude0
ClinVar
Risk rs199473407(C,T;C,T)
Alt rs199473407(C,T;C,T)
Reference rs199473407(G;G)
Significance Pathogenic
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.2606488G>C; NC_000011.9:g.2606488G>T
CLNSRC ClinVar
CLNACC RCV000045955.2, RCV000057546.2, RCV000057547.2,