rs140243105
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140243105(C;T) |
| Make rs140243105(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 39912909 |
| Gene | MOCS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140243105 |
| dbSNP (classic) | rs140243105 |
| ClinGen | rs140243105 |
| ebi | rs140243105 |
| HLI | rs140243105 |
| Exac | rs140243105 |
| Gnomad | rs140243105 |
| Varsome | rs140243105 |
| LitVar | rs140243105 |
| Map | rs140243105 |
| PheGenI | rs140243105 |
| Biobank | rs140243105 |
| 1000 genomes | rs140243105 |
| hgdp | rs140243105 |
| ensembl | rs140243105 |
| geneview | rs140243105 |
| scholar | rs140243105 |
| rs140243105 | |
| pharmgkb | rs140243105 |
| gwascentral | rs140243105 |
| openSNP | rs140243105 |
| 23andMe | rs140243105 |
| SNPshot | rs140243105 |
| SNPdbe | rs140243105 |
| MSV3d | rs140243105 |
| GWAS Ctlg | rs140243105 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140243105(G;G) rs140243105(T;T) |
| Alt | rs140243105(G;G) rs140243105(T;T) |
| Reference | Rs140243105(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Molybdenum cofactor deficiency Molybdenum cofactor deficiency not provided |
| Variation | info |
| Gene | MOCS1 |
| CLNDBN | Molybdenum cofactor deficiency, complementation group A Molybdenum cofactor deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.39880653C>T |
| CLNSRC | |
| CLNACC | RCV000190510.2, RCV000342974.1, RCV000415797.1, |
