rs10258719
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs10258719(A;G) |
| Make rs10258719(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 138771243 |
| Gene | ATP6V0A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10258719 |
| dbSNP (classic) | rs10258719 |
| ClinGen | rs10258719 |
| ebi | rs10258719 |
| HLI | rs10258719 |
| Exac | rs10258719 |
| Gnomad | rs10258719 |
| Varsome | rs10258719 |
| LitVar | rs10258719 |
| Map | rs10258719 |
| PheGenI | rs10258719 |
| Biobank | rs10258719 |
| 1000 genomes | rs10258719 |
| hgdp | rs10258719 |
| ensembl | rs10258719 |
| geneview | rs10258719 |
| scholar | rs10258719 |
| rs10258719 | |
| pharmgkb | rs10258719 |
| gwascentral | rs10258719 |
| openSNP | rs10258719 |
| 23andMe | rs10258719 |
| SNPshot | rs10258719 |
| SNPdbe | rs10258719 |
| MSV3d | rs10258719 |
| GWAS Ctlg | rs10258719 |
| GMAF | 0.3411 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs10258719(G;G) |
| Alt | rs10258719(G;G) |
| Reference | Rs10258719(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Distal Renal Tubular Acidosis |
| Variation | info |
| Gene | ATP6V0A4 |
| CLNDBN | not specified Distal Renal Tubular Acidosis, Recessive |
| Reversed | 0 |
| HGVS | NC_000007.13:g.138455988A>G |
| CLNSRC | |
| CLNACC | RCV000245255.1, RCV000357816.1, |
