rs1800862
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1800862(C;T) |
| Make rs1800862(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43119646 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800862 |
| dbSNP (classic) | rs1800862 |
| ClinGen | rs1800862 |
| ebi | rs1800862 |
| HLI | rs1800862 |
| Exac | rs1800862 |
| Gnomad | rs1800862 |
| Varsome | rs1800862 |
| LitVar | rs1800862 |
| Map | rs1800862 |
| PheGenI | rs1800862 |
| Biobank | rs1800862 |
| 1000 genomes | rs1800862 |
| hgdp | rs1800862 |
| ensembl | rs1800862 |
| geneview | rs1800862 |
| scholar | rs1800862 |
| rs1800862 | |
| pharmgkb | rs1800862 |
| gwascentral | rs1800862 |
| openSNP | rs1800862 |
| 23andMe | rs1800862 |
| SNPshot | rs1800862 |
| SNPdbe | rs1800862 |
| MSV3d | rs1800862 |
| GWAS Ctlg | rs1800862 |
| GMAF | 0.03168 |
| Max Magnitude | 0 |
[PMID 23059849] Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form
| ClinVar | |
|---|---|
| Risk | rs1800862(T;T) |
| Alt | rs1800862(T;T) |
| Reference | Rs1800862(C;C) |
| Significance | Other |
| Disease | No MEN2 disease not specified Multiple endocrine neoplasia Hirschsprung Disease Pheochromocytoma Renal adysplasia Multiple endocrine neoplasia |
| Variation | info |
| Gene | RET |
| CLNDBN | No MEN2 disease not specified Multiple endocrine neoplasia Hirschsprung Disease, Dominant Pheochromocytoma Renal adysplasia Multiple endocrine neoplasia, type 2 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43615094C>T |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000021860.1, RCV000151741.4, RCV000203081.2, RCV000264509.1, RCV000327711.1, RCV000359214.1, RCV000463335.1, |
[PMID 19138047
] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
[PMID 10022819] Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.
[PMID 28946813] Nationwide French study of RET variants detected from 2003 to 2013 suggests a possible influence of polymorphisms as modifiers.
