rs75030001
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs75030001(C;C) |
| Make rs75030001(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43118458 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75030001 |
| dbSNP (classic) | rs75030001 |
| ClinGen | rs75030001 |
| ebi | rs75030001 |
| HLI | rs75030001 |
| Exac | rs75030001 |
| Gnomad | rs75030001 |
| Varsome | rs75030001 |
| LitVar | rs75030001 |
| Map | rs75030001 |
| PheGenI | rs75030001 |
| Biobank | rs75030001 |
| 1000 genomes | rs75030001 |
| hgdp | rs75030001 |
| ensembl | rs75030001 |
| geneview | rs75030001 |
| scholar | rs75030001 |
| rs75030001 | |
| pharmgkb | rs75030001 |
| gwascentral | rs75030001 |
| openSNP | rs75030001 |
| 23andMe | rs75030001 |
| SNPshot | rs75030001 |
| SNPdbe | rs75030001 |
| MSV3d | rs75030001 |
| GWAS Ctlg | rs75030001 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75030001(C;C) rs75030001(T;T) |
| Alt | rs75030001(C;C) rs75030001(T;T) |
| Reference | Rs75030001(G;G) |
| Significance | Pathogenic |
| Disease | Multiple endocrine neoplasia Familial medullary thyroid carcinoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | RET |
| CLNDBN | Multiple endocrine neoplasia, type 2a Familial medullary thyroid carcinoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43613906G>C; NC_000010.10:g.43613906G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014960.22, RCV000014961.22, RCV000021849.1, RCV000182583.2, RCV000032038.1, RCV000163610.2, RCV000339507.2, |
[PMID 9506724] A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.
