rs387907200
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a SPR deficiency mutation |
| Make rs387907200(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 72887736 |
| Gene | SPR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387907200 |
| dbSNP (classic) | rs387907200 |
| ClinGen | rs387907200 |
| ebi | rs387907200 |
| HLI | rs387907200 |
| Exac | rs387907200 |
| Gnomad | rs387907200 |
| Varsome | rs387907200 |
| LitVar | rs387907200 |
| Map | rs387907200 |
| PheGenI | rs387907200 |
| Biobank | rs387907200 |
| 1000 genomes | rs387907200 |
| hgdp | rs387907200 |
| ensembl | rs387907200 |
| geneview | rs387907200 |
| scholar | rs387907200 |
| rs387907200 | |
| pharmgkb | rs387907200 |
| gwascentral | rs387907200 |
| openSNP | rs387907200 |
| 23andMe | rs387907200 |
| SNPshot | rs387907200 |
| SNPdbe | rs387907200 |
| MSV3d | rs387907200 |
| GWAS Ctlg | rs387907200 |
| Max Magnitude | 3 |
aka c.304G>T (p.Gly102Cys)
| ClinVar | |
|---|---|
| Risk | rs387907200(T;T) |
| Alt | rs387907200(T;T) |
| Reference | Rs387907200(G;G) |
| Significance | Pathogenic |
| Disease | Sepiapterin reductase deficiency |
| Variation | info |
| Gene | SPR |
| CLNDBN | Sepiapterin reductase deficiency |
| Reversed | 0 |
| HGVS | NC_000002.11:g.73114865G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024605.25, |
