rs77316810
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
| (C;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
| (G;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
| (T;T) | 0 | common in clinvar |
| Make rs77316810(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43113654 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77316810 |
| dbSNP (classic) | rs77316810 |
| ClinGen | rs77316810 |
| ebi | rs77316810 |
| HLI | rs77316810 |
| Exac | rs77316810 |
| Gnomad | rs77316810 |
| Varsome | rs77316810 |
| LitVar | rs77316810 |
| Map | rs77316810 |
| PheGenI | rs77316810 |
| Biobank | rs77316810 |
| 1000 genomes | rs77316810 |
| hgdp | rs77316810 |
| ensembl | rs77316810 |
| geneview | rs77316810 |
| scholar | rs77316810 |
| rs77316810 | |
| pharmgkb | rs77316810 |
| gwascentral | rs77316810 |
| openSNP | rs77316810 |
| 23andMe | rs77316810 |
| SNPshot | rs77316810 |
| SNPdbe | rs77316810 |
| MSV3d | rs77316810 |
| GWAS Ctlg | rs77316810 |
| Max Magnitude | 5.1 |
| ClinVar | |
|---|---|
| Risk | rs77316810(A;A) rs77316810(C;C) rs77316810(G;G) |
| Alt | rs77316810(A;A) rs77316810(C;C) rs77316810(G;G) |
| Reference | Rs77316810(T;T) |
| Significance | Pathogenic |
| Disease | MEN2A and Unclassified Multiple endocrine neoplasia MEN2A and FMTC not provided Multiple endocrine neoplasia |
| Variation | info |
| Gene | RET |
| CLNDBN | MEN2A and Unclassified Multiple endocrine neoplasia, type 2a MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43609102T>A; NC_000010.10:g.43609102T>C; NC_000010.10:g.43609102T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000021798.1, RCV000014935.24, RCV000021799.1, RCV000182580.3, RCV000232285.2, RCV000021800.1, |
[PMID 10777380] Unilateral renal agenesis in a family with medullary thyroid carcinoma. [PMID 7849720] RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
[PMID 9223675] Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
