rs74315283
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier for a renal tubular dysgenesis mutation |
(G;G) | 0 | common in clinvar |
Make rs74315283(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 230705933 |
Gene | AGT |
is a | snp |
is | mentioned by |
dbSNP | rs74315283 |
dbSNP (classic) | rs74315283 |
ClinGen | rs74315283 |
ebi | rs74315283 |
HLI | rs74315283 |
Exac | rs74315283 |
Gnomad | rs74315283 |
Varsome | rs74315283 |
LitVar | rs74315283 |
Map | rs74315283 |
PheGenI | rs74315283 |
Biobank | rs74315283 |
1000 genomes | rs74315283 |
hgdp | rs74315283 |
ensembl | rs74315283 |
geneview | rs74315283 |
scholar | rs74315283 |
rs74315283 | |
pharmgkb | rs74315283 |
gwascentral | rs74315283 |
openSNP | rs74315283 |
23andMe | rs74315283 |
SNPshot | rs74315283 |
SNPdbe | rs74315283 |
MSV3d | rs74315283 |
GWAS Ctlg | rs74315283 |
Max Magnitude | 3 |
see OMIM 106150.0003
ClinVar | |
---|---|
Risk | rs74315283(A;A) |
Alt | rs74315283(A;A) |
Reference | Rs74315283(G;G) |
Significance | Pathogenic |
Disease | Renal dysplasia |
Variation | info |
Gene | AGT |
CLNDBN | Renal dysplasia |
Reversed | 1 |
HGVS | NC_000001.10:g.230841679C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019696.29, |