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rs12720458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs12720458(A;G)
Make rs12720458(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585264
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs12720458
ebirs12720458
HLIrs12720458
Exacrs12720458
Varsomers12720458
Maprs12720458
PheGenIrs12720458
hapmaprs12720458
1000 genomesrs12720458
hgdprs12720458
ensemblrs12720458
gopubmedrs12720458
geneviewrs12720458
scholarrs12720458
googlers12720458
pharmgkbrs12720458
gwascentralrs12720458
openSNPrs12720458
23andMers12720458
23andMe allrs12720458
SNP Nexus

SNPshotrs12720458
SNPdbers12720458
MSV3drs12720458
GWAS Ctlgrs12720458
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs12720458(G;G)
Alt rs12720458(G;G)
Reference rs12720458(A;A)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not specified not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not specified not provided
Reversed 0
HGVS NC_000011.9:g.2606494A>G
CLNSRC ClinVar
CLNACC RCV000045957.2, RCV000057548.2, RCV000182171.2, RCV000223836.1,