rs779536510
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs779536510(-;A) |
| Make rs779536510(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 18874481 |
| Gene | ALDH4A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779536510 |
| dbSNP (classic) | rs779536510 |
| ClinGen | rs779536510 |
| ebi | rs779536510 |
| HLI | rs779536510 |
| Exac | rs779536510 |
| Gnomad | rs779536510 |
| Varsome | rs779536510 |
| LitVar | rs779536510 |
| Map | rs779536510 |
| PheGenI | rs779536510 |
| Biobank | rs779536510 |
| 1000 genomes | rs779536510 |
| hgdp | rs779536510 |
| ensembl | rs779536510 |
| geneview | rs779536510 |
| scholar | rs779536510 |
| rs779536510 | |
| pharmgkb | rs779536510 |
| gwascentral | rs779536510 |
| openSNP | rs779536510 |
| 23andMe | rs779536510 |
| SNPshot | rs779536510 |
| SNPdbe | rs779536510 |
| MSV3d | rs779536510 |
| GWAS Ctlg | rs779536510 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs779536510(A;A) |
| Alt | rs779536510(A;A) |
| Reference | Rs779536510(-;-) |
| Significance | Pathogenic |
| Disease | Deficiency of pyrroline-5-carboxylate reductase |
| Variation | info |
| Gene | ALDH4A1 |
| CLNDBN | Deficiency of pyrroline-5-carboxylate reductase |
| Reversed | 0 |
| HGVS | NC_000001.10:g.19200976dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004209.3, |
