rs879255231
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255231(A;G) |
Make rs879255231(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 56848694 |
Gene | DGKE |
is a | snp |
is | mentioned by |
dbSNP | rs879255231 |
dbSNP (classic) | rs879255231 |
ClinGen | rs879255231 |
ebi | rs879255231 |
HLI | rs879255231 |
Exac | rs879255231 |
Gnomad | rs879255231 |
Varsome | rs879255231 |
LitVar | rs879255231 |
Map | rs879255231 |
PheGenI | rs879255231 |
Biobank | rs879255231 |
1000 genomes | rs879255231 |
hgdp | rs879255231 |
ensembl | rs879255231 |
geneview | rs879255231 |
scholar | rs879255231 |
rs879255231 | |
pharmgkb | rs879255231 |
gwascentral | rs879255231 |
openSNP | rs879255231 |
23andMe | rs879255231 |
SNPshot | rs879255231 |
SNPdbe | rs879255231 |
MSV3d | rs879255231 |
GWAS Ctlg | rs879255231 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255231(G;G) |
Alt | rs879255231(G;G) |
Reference | Rs879255231(A;A) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | DGKE |
CLNDBN | Nephrotic syndrome, type 7 |
Reversed | 0 |
HGVS | NC_000017.10:g.54926055A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032780.3, |