rs143795581
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs143795581(A;G) |
| Make rs143795581(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43114596 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143795581 |
| dbSNP (classic) | rs143795581 |
| ClinGen | rs143795581 |
| ebi | rs143795581 |
| HLI | rs143795581 |
| Exac | rs143795581 |
| Gnomad | rs143795581 |
| Varsome | rs143795581 |
| LitVar | rs143795581 |
| Map | rs143795581 |
| PheGenI | rs143795581 |
| Biobank | rs143795581 |
| 1000 genomes | rs143795581 |
| hgdp | rs143795581 |
| ensembl | rs143795581 |
| geneview | rs143795581 |
| scholar | rs143795581 |
| rs143795581 | |
| pharmgkb | rs143795581 |
| gwascentral | rs143795581 |
| openSNP | rs143795581 |
| 23andMe | rs143795581 |
| SNPshot | rs143795581 |
| SNPdbe | rs143795581 |
| MSV3d | rs143795581 |
| GWAS Ctlg | rs143795581 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143795581(C;C) rs143795581(G;G) |
| Alt | rs143795581(C;C) rs143795581(G;G) |
| Reference | Rs143795581(A;A) |
| Significance | Pathogenic |
| Disease | MEN2A and Unclassified Medullary thyroid carcinoma |
| Variation | info |
| Gene | RET |
| CLNDBN | MEN2A and Unclassified Medullary thyroid carcinoma |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43610044A>G |
| CLNSRC | ClinVar University of Washington |
| CLNACC | RCV000021838.1, RCV000148771.1, |
[PMID 15858153
] Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.
