rs35859650
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a possible muscle AMP deaminase deficiency mutation |
| (G;G) | 0 | common in clinvar |
| Make rs35859650(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 114677972 |
| Gene | AMPD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35859650 |
| dbSNP (classic) | rs35859650 |
| ClinGen | rs35859650 |
| ebi | rs35859650 |
| HLI | rs35859650 |
| Exac | rs35859650 |
| Gnomad | rs35859650 |
| Varsome | rs35859650 |
| LitVar | rs35859650 |
| Map | rs35859650 |
| PheGenI | rs35859650 |
| Biobank | rs35859650 |
| 1000 genomes | rs35859650 |
| hgdp | rs35859650 |
| ensembl | rs35859650 |
| geneview | rs35859650 |
| scholar | rs35859650 |
| rs35859650 | |
| pharmgkb | rs35859650 |
| gwascentral | rs35859650 |
| openSNP | rs35859650 |
| 23andMe | rs35859650 |
| SNPshot | rs35859650 |
| SNPdbe | rs35859650 |
| MSV3d | rs35859650 |
| GWAS Ctlg | rs35859650 |
| GMAF | 0.001377 |
| Max Magnitude | 3 |
AMPD1 gene, c.1261C>T (p.Arg421Trp)
One report in ClinVar (based on OMIM) of a single individual in which this is reported to be a recessively inherited mutation leading to muscle AMP deaminase deficiency.
| ClinVar | |
|---|---|
| Risk | rs35859650(A;A) |
| Alt | rs35859650(A;A) |
| Reference | Rs35859650(G;G) |
| Significance | Pathogenic |
| Disease | Muscle AMP deaminase deficiency |
| Variation | info |
| Gene | AMPD1 |
| CLNDBN | Muscle AMP deaminase deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.115220593G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019934.30, |
