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rs312262697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262697(C;T)
Make rs312262697(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position56848807
GeneDGKE
is asnp
is mentioned by
dbSNPrs312262697
dbSNP (classic)rs312262697
ClinGenrs312262697
ebirs312262697
HLIrs312262697
Exacrs312262697
Gnomadrs312262697
Varsomers312262697
LitVarrs312262697
Maprs312262697
PheGenIrs312262697
Biobankrs312262697
1000 genomesrs312262697
hgdprs312262697
ensemblrs312262697
geneviewrs312262697
scholarrs312262697
googlers312262697
pharmgkbrs312262697
gwascentralrs312262697
openSNPrs312262697
23andMers312262697
SNPshotrs312262697
SNPdbers312262697
MSV3drs312262697
GWAS Ctlgrs312262697
Max Magnitude0
ClinVar
Risk rs312262697(T;T)
Alt rs312262697(T;T)
Reference Rs312262697(C;C)
Significance Probable-Pathogenic
Disease Atypical hemolytic uremic syndrome
Variation info
Gene DGKE
CLNDBN Atypical hemolytic uremic syndrome
Reversed 0
HGVS NC_000017.10:g.54926168C>T
CLNSRC ClinVar
CLNACC RCV000122611.1,