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rs199472702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Romano-Ward Long QT Syndrome
(G;G) 0 common in clinvar
Make rs199472702(C;C)
Make rs199472702(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570754
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472702
dbSNP (classic)rs199472702
ClinGenrs199472702
ebirs199472702
HLIrs199472702
Exacrs199472702
Gnomadrs199472702
Varsomers199472702
LitVarrs199472702
Maprs199472702
PheGenIrs199472702
Biobankrs199472702
1000 genomesrs199472702
hgdprs199472702
ensemblrs199472702
geneviewrs199472702
scholarrs199472702
googlers199472702
pharmgkbrs199472702
gwascentralrs199472702
openSNPrs199472702
23andMers199472702
SNPshotrs199472702
SNPdbers199472702
MSV3drs199472702
GWAS Ctlgrs199472702
Max Magnitude5
ClinVar
Risk rs199472702(A;A) rs199472702(C;C)
Alt rs199472702(A;A) rs199472702(C;C)
Reference Rs199472702(G;G)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2591984G>A; NC_000011.9:g.2591984G>C
CLNSRC ClinVar
CLNACC RCV000046096.2, RCV000057718.3, RCV000182091.2, RCV000057719.3,