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rs147972030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147972030(-;-)
Make rs147972030(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position56844164
GeneDGKE
is asnp
is mentioned by
dbSNPrs147972030
dbSNP (classic)rs147972030
ClinGenrs147972030
ebirs147972030
HLIrs147972030
Exacrs147972030
Gnomadrs147972030
Varsomers147972030
LitVarrs147972030
Maprs147972030
PheGenIrs147972030
Biobankrs147972030
1000 genomesrs147972030
hgdprs147972030
ensemblrs147972030
geneviewrs147972030
scholarrs147972030
googlers147972030
pharmgkbrs147972030
gwascentralrs147972030
openSNPrs147972030
23andMers147972030
SNPshotrs147972030
SNPdbers147972030
MSV3drs147972030
GWAS Ctlgrs147972030
Max Magnitude0
ClinVar
Risk rs147972030(-;-)
Alt rs147972030(-;-)
Reference Rs147972030(A;A)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene DGKE
CLNDBN Nephrotic syndrome, type 7
Reversed 0
HGVS NC_000017.10:g.54921525delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032779.4,