rs146646971
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 5.1 | Multiple Endocrine Neoplasia IIA |
| (G;G) | 0 | common in clinvar |
| Make rs146646971(G;T) |
| Make rs146646971(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43114598 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146646971 |
| dbSNP (classic) | rs146646971 |
| ClinGen | rs146646971 |
| ebi | rs146646971 |
| HLI | rs146646971 |
| Exac | rs146646971 |
| Gnomad | rs146646971 |
| Varsome | rs146646971 |
| LitVar | rs146646971 |
| Map | rs146646971 |
| PheGenI | rs146646971 |
| Biobank | rs146646971 |
| 1000 genomes | rs146646971 |
| hgdp | rs146646971 |
| ensembl | rs146646971 |
| geneview | rs146646971 |
| scholar | rs146646971 |
| rs146646971 | |
| pharmgkb | rs146646971 |
| gwascentral | rs146646971 |
| openSNP | rs146646971 |
| 23andMe | rs146646971 |
| SNPshot | rs146646971 |
| SNPdbe | rs146646971 |
| MSV3d | rs146646971 |
| GWAS Ctlg | rs146646971 |
| Max Magnitude | 5.1 |
| ClinVar | |
|---|---|
| Risk | rs146646971(C;C) rs146646971(T;T) |
| Alt | rs146646971(C;C) rs146646971(T;T) |
| Reference | Rs146646971(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome MEN2 phenotype: Unknown not provided Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia |
| Variation | info |
| Gene | RET |
| CLNDBN | Hereditary cancer-predisposing syndrome MEN2 phenotype: Unknown not provided Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43610046G>C; NC_000010.10:g.43610046G>T |
| CLNSRC | HGMD |
| CLNACC | RCV000219014.1, RCV000021839.1, RCV000082052.4, RCV000148772.1, RCV000174156.1, RCV000467461.1, |
