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rs606231414

From SNPedia

Orientationplus
Geno Mag Summary
(GCTGC;GCTGC) 0 common in clinvar
Make rs606231414(-;-)
Make rs606231414(-;TGCGC)
Make rs606231414(TGCGC;TGCGC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position2570722
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs606231414
ClinGenrs606231414
ebirs606231414
HLIrs606231414
Exacrs606231414
Varsomers606231414
Maprs606231414
PheGenIrs606231414
hapmaprs606231414
1000 genomesrs606231414
hgdprs606231414
ensemblrs606231414
gopubmedrs606231414
geneviewrs606231414
scholarrs606231414
googlers606231414
pharmgkbrs606231414
gwascentralrs606231414
openSNPrs606231414
23andMers606231414
23andMe allrs606231414
SNP Nexus

SNPshotrs606231414
SNPdbers606231414
MSV3drs606231414
GWAS Ctlgrs606231414
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs606231414(GCTGC;GCTGC)
Significance Pathogenic
Disease Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2591953_2591957delGCGCT
CLNSRC
CLNACC RCV000046091.3, RCV000144973.1, RCV000182268.2, RCV000233139.1,