rs201372601
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201372601(G;T) |
| Make rs201372601(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 112094969 |
| Gene | SDHD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201372601 |
| dbSNP (classic) | rs201372601 |
| ClinGen | rs201372601 |
| ebi | rs201372601 |
| HLI | rs201372601 |
| Exac | rs201372601 |
| Gnomad | rs201372601 |
| Varsome | rs201372601 |
| LitVar | rs201372601 |
| Map | rs201372601 |
| PheGenI | rs201372601 |
| Biobank | rs201372601 |
| 1000 genomes | rs201372601 |
| hgdp | rs201372601 |
| ensembl | rs201372601 |
| geneview | rs201372601 |
| scholar | rs201372601 |
| rs201372601 | |
| pharmgkb | rs201372601 |
| gwascentral | rs201372601 |
| openSNP | rs201372601 |
| 23andMe | rs201372601 |
| SNPshot | rs201372601 |
| SNPdbe | rs201372601 |
| MSV3d | rs201372601 |
| GWAS Ctlg | rs201372601 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201372601(T;T) |
| Alt | rs201372601(T;T) |
| Reference | Rs201372601(G;G) |
| Significance | Pathogenic |
| Disease | Mitochondrial complex II deficiency not specified Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma |
| Variation | info |
| Gene | SDHD |
| CLNDBN | Mitochondrial complex II deficiency not specified Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma |
| Reversed | 0 |
| HGVS | NC_000011.9:g.111965693G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000144172.4, RCV000454533.1, RCV000476218.1, |
