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rs199473412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473412(A;A)
Make rs199473412(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585290
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473412
ebirs199473412
HLIrs199473412
Exacrs199473412
Varsomers199473412
Maprs199473412
PheGenIrs199473412
hapmaprs199473412
1000 genomesrs199473412
hgdprs199473412
ensemblrs199473412
gopubmedrs199473412
geneviewrs199473412
scholarrs199473412
googlers199473412
pharmgkbrs199473412
gwascentralrs199473412
openSNPrs199473412
23andMers199473412
23andMe allrs199473412
SNP Nexus

SNPshotrs199473412
SNPdbers199473412
MSV3drs199473412
GWAS Ctlgrs199473412
Max Magnitude0
ClinVar
Risk rs199473412(A,C;A,C)
Alt rs199473412(A,C;A,C)
Reference rs199473412(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2606520G>A; NC_000011.9:g.2606520G>C
CLNSRC ClinVar
CLNACC RCV000045963.2, RCV000057555.2, RCV000230409.1,