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rs199830292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199830292(C;C)
Make rs199830292(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128916630
GeneKCNJ5
is asnp
is mentioned by
dbSNPrs199830292
ebirs199830292
HLIrs199830292
Exacrs199830292
Varsomers199830292
Maprs199830292
PheGenIrs199830292
hapmaprs199830292
1000 genomesrs199830292
hgdprs199830292
ensemblrs199830292
gopubmedrs199830292
geneviewrs199830292
scholarrs199830292
googlers199830292
pharmgkbrs199830292
gwascentralrs199830292
openSNPrs199830292
23andMers199830292
23andMe allrs199830292
SNP Nexus

SNPshotrs199830292
SNPdbers199830292
MSV3drs199830292
GWAS Ctlgrs199830292
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199830292(C;C)
Alt rs199830292(C;C)
Reference rs199830292(G;G)
Significance Pathogenic
Disease Long QT syndrome 13 Andersen Tawil syndrome
Variation info
Gene KCNJ5
CLNDBN Long QT syndrome 13 Andersen Tawil syndrome
Reversed 0
HGVS NC_000011.9:g.128786525G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009405.4, RCV000193019.1,