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rs199473385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473385(C;C)
Make rs199473385(C;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175818
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473385
dbSNP (classic)rs199473385
ClinGenrs199473385
ebirs199473385
HLIrs199473385
Exacrs199473385
Gnomadrs199473385
Varsomers199473385
LitVarrs199473385
Maprs199473385
PheGenIrs199473385
Biobankrs199473385
1000 genomesrs199473385
hgdprs199473385
ensemblrs199473385
geneviewrs199473385
scholarrs199473385
googlers199473385
pharmgkbrs199473385
gwascentralrs199473385
openSNPrs199473385
23andMers199473385
SNPshotrs199473385
SNPdbers199473385
MSV3drs199473385
GWAS Ctlgrs199473385
Max Magnitude0
ClinVar
Risk rs199473385(C;C)
Alt rs199473385(C;C)
Reference Rs199473385(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000017.10:g.68171959G>C
CLNSRC ClinVar
CLNACC RCV000058329.3, RCV000170984.2,