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rs786204778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204778(-;-)
Make rs786204778(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2572891
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs786204778
dbSNP (classic)rs786204778
ClinGenrs786204778
ebirs786204778
HLIrs786204778
Exacrs786204778
Gnomadrs786204778
Varsomers786204778
LitVarrs786204778
Maprs786204778
PheGenIrs786204778
Biobankrs786204778
1000 genomesrs786204778
hgdprs786204778
ensemblrs786204778
geneviewrs786204778
scholarrs786204778
googlers786204778
pharmgkbrs786204778
gwascentralrs786204778
openSNPrs786204778
23andMers786204778
SNPshotrs786204778
SNPdbers786204778
MSV3drs786204778
GWAS Ctlgrs786204778
Max Magnitude0
ClinVar
Risk rs786204778(-;-)
Alt rs786204778(-;-)
Reference Rs786204778(T;T)
Significance Probable-Pathogenic
Disease Jervell and Lange-Nielsen syndrome
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome
Reversed 0
HGVS NC_000011.9:g.2594121delT
CLNSRC
CLNACC RCV000169662.1,