rs147972030
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs147972030(-;-) |
Make rs147972030(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 56844164 |
Gene | DGKE |
is a | snp |
is | mentioned by |
dbSNP | rs147972030 |
dbSNP (classic) | rs147972030 |
ClinGen | rs147972030 |
ebi | rs147972030 |
HLI | rs147972030 |
Exac | rs147972030 |
Gnomad | rs147972030 |
Varsome | rs147972030 |
LitVar | rs147972030 |
Map | rs147972030 |
PheGenI | rs147972030 |
Biobank | rs147972030 |
1000 genomes | rs147972030 |
hgdp | rs147972030 |
ensembl | rs147972030 |
geneview | rs147972030 |
scholar | rs147972030 |
rs147972030 | |
pharmgkb | rs147972030 |
gwascentral | rs147972030 |
openSNP | rs147972030 |
23andMe | rs147972030 |
SNPshot | rs147972030 |
SNPdbe | rs147972030 |
MSV3d | rs147972030 |
GWAS Ctlg | rs147972030 |
Max Magnitude | 0 |
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, |