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rs199472702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(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
ebirs199472702
HLIrs199472702
Exacrs199472702
Varsomers199472702
Maprs199472702
PheGenIrs199472702
hapmaprs199472702
1000 genomesrs199472702
hgdprs199472702
ensemblrs199472702
gopubmedrs199472702
geneviewrs199472702
scholarrs199472702
googlers199472702
pharmgkbrs199472702
gwascentralrs199472702
openSNPrs199472702
23andMers199472702
23andMe allrs199472702
SNP Nexus

SNPshotrs199472702
SNPdbers199472702
MSV3drs199472702
GWAS Ctlgrs199472702
Max Magnitude0
ClinVar
Risk rs199472702(A,C;A,C)
Alt rs199472702(A,C;A,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, RCV000057718.2, RCV000182091.2, RCV000057719.2,