rs77558292
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
| (G;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
| (T;T) | 0 | common in clinvar |
| Make rs77558292(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43113621 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77558292 |
| dbSNP (classic) | rs77558292 |
| ClinGen | rs77558292 |
| ebi | rs77558292 |
| HLI | rs77558292 |
| Exac | rs77558292 |
| Gnomad | rs77558292 |
| Varsome | rs77558292 |
| LitVar | rs77558292 |
| Map | rs77558292 |
| PheGenI | rs77558292 |
| Biobank | rs77558292 |
| 1000 genomes | rs77558292 |
| hgdp | rs77558292 |
| ensembl | rs77558292 |
| geneview | rs77558292 |
| scholar | rs77558292 |
| rs77558292 | |
| pharmgkb | rs77558292 |
| gwascentral | rs77558292 |
| openSNP | rs77558292 |
| 23andMe | rs77558292 |
| SNPshot | rs77558292 |
| SNPdbe | rs77558292 |
| MSV3d | rs77558292 |
| GWAS Ctlg | rs77558292 |
| Max Magnitude | 5.1 |
| ClinVar | |
|---|---|
| Risk | rs77558292(A;A) rs77558292(C;C) rs77558292(G;G) |
| Alt | rs77558292(A;A) rs77558292(C;C) rs77558292(G;G) |
| Reference | Rs77558292(T;T) |
| Significance | Pathogenic |
| Disease | MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC not provided Multiple endocrine neoplasia |
| Variation | info |
| Gene | RET |
| CLNDBN | MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2a |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43609069T>A; NC_000010.10:g.43609069T>C; NC_000010.10:g.43609069T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000021775.1, RCV000014971.25, RCV000021776.1, RCV000414355.1, RCV000021777.1, |
[PMID 10982477] Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. [PMID 11955539] Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
[PMID 8626834] Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.
