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rs797044842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044842(C;C)
Make rs797044842(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position70176005
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs797044842
dbSNP (classic)rs797044842
ClinGenrs797044842
ebirs797044842
HLIrs797044842
Exacrs797044842
Gnomadrs797044842
Varsomers797044842
LitVarrs797044842
Maprs797044842
PheGenIrs797044842
Biobankrs797044842
1000 genomesrs797044842
hgdprs797044842
ensemblrs797044842
geneviewrs797044842
scholarrs797044842
googlers797044842
pharmgkbrs797044842
gwascentralrs797044842
openSNPrs797044842
23andMers797044842
SNPshotrs797044842
SNPdbers797044842
MSV3drs797044842
GWAS Ctlgrs797044842
Max Magnitude0
ClinVar
Risk rs797044842(C;C)
Alt rs797044842(C;C)
Reference Rs797044842(G;G)
Significance Pathogenic
Disease Andersen Tawil syndrome
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome
Reversed 0
HGVS NC_000017.10:g.68172146G>C
CLNSRC
CLNACC RCV000193904.1,