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rs864622292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCA;CCA) 0 common in clinvar
Make rs864622292(CCA;TTT)
Make rs864622292(TTT;TTT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position70175446
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs864622292
dbSNP (old)rs864622292
ClinGenrs864622292
ebirs864622292
HLIrs864622292
Exacrs864622292
Gnomadrs864622292
Varsomers864622292
Maprs864622292
PheGenIrs864622292
Biobankrs864622292
1000 genomesrs864622292
hgdprs864622292
ensemblrs864622292
gopubmedrs864622292
geneviewrs864622292
scholarrs864622292
googlers864622292
pharmgkbrs864622292
gwascentralrs864622292
openSNPrs864622292
23andMers864622292
23andMe allrs864622292
SNP Nexus

SNPshotrs864622292
SNPdbers864622292
MSV3drs864622292
GWAS Ctlgrs864622292
Max Magnitude0
ClinVar
Risk rs864622292(TTT;TTT)
Alt rs864622292(TTT;TTT)
Reference Rs864622292(CCA;CCA)
Significance Probable-Pathogenic
Disease Andersen Tawil syndrome
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome
Reversed 0
HGVS NC_000017.10:g.68171587_68171589delCCAinsTTT
CLNSRC
CLNACC RCV000206325.3,