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rs138924661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 Nephrotic syndrome type 7
(A;G) 3.9 Carrier of nephrotic syndrome mutation; possible effects?
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome17
Position56848773
GeneDGKE
is asnp
is mentioned by
dbSNPrs138924661
dbSNP (classic)rs138924661
ClinGenrs138924661
ebirs138924661
HLIrs138924661
Exacrs138924661
Gnomadrs138924661
Varsomers138924661
LitVarrs138924661
Maprs138924661
PheGenIrs138924661
Biobankrs138924661
1000 genomesrs138924661
hgdprs138924661
ensemblrs138924661
geneviewrs138924661
scholarrs138924661
googlers138924661
pharmgkbrs138924661
gwascentralrs138924661
openSNPrs138924661
23andMers138924661
23andMe allrs138924661
SNPshotrs138924661
SNPdbers138924661
MSV3drs138924661
GWAS Ctlgrs138924661
Max Magnitude7

aka c.966G>A, p.Trp322Ter, W322X or W322*

ClinVar indicated "likely pathogenic" for atypical hemolytic uremic syndrome, also known as nephrotic syndrome type 7, listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion).

ClinVar
Risk Rs138924661(A;A)
Alt Rs138924661(A;A)
Reference Rs138924661(G;G)
Significance Other
Disease Hemolytic uremic syndrome Atypical hemolytic uremic syndrome
Variation info
Gene DGKE
CLNDBN Hemolytic uremic syndrome, atypical, susceptibility to, 7 Atypical hemolytic uremic syndrome
Reversed 0
HGVS NC_000017.10:g.54926134G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043567.3, RCV000122617.1,