rs1800861
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1800861(A;A) |
| Make rs1800861(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43118395 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800861 |
| dbSNP (classic) | rs1800861 |
| ClinGen | rs1800861 |
| ebi | rs1800861 |
| HLI | rs1800861 |
| Exac | rs1800861 |
| Gnomad | rs1800861 |
| Varsome | rs1800861 |
| LitVar | rs1800861 |
| Map | rs1800861 |
| PheGenI | rs1800861 |
| Biobank | rs1800861 |
| 1000 genomes | rs1800861 |
| hgdp | rs1800861 |
| ensembl | rs1800861 |
| geneview | rs1800861 |
| scholar | rs1800861 |
| rs1800861 | |
| pharmgkb | rs1800861 |
| gwascentral | rs1800861 |
| openSNP | rs1800861 |
| 23andMe | rs1800861 |
| SNPshot | rs1800861 |
| SNPdbe | rs1800861 |
| MSV3d | rs1800861 |
| GWAS Ctlg | rs1800861 |
| GMAF | 0.2773 |
| 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 | rs1800861(A;A) rs1800861(T;T) |
| Alt | rs1800861(A;A) rs1800861(T;T) |
| Reference | Rs1800861(C;C) |
| Significance | Non-pathogenic |
| Disease | No MEN2 disease not specified Multiple endocrine neoplasia |
| Variation | info |
| Gene | RET |
| CLNDBN | No MEN2 disease not specified Multiple endocrine neoplasia, type 2 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.43613843G\x3d; NC_000010.10:g.43613843G>T |
| CLNSRC | HGMD |
| CLNACC | RCV000021844.1, RCV000154625.1, RCV000203706.2, RCV000153835.3, |
[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 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21349203] Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.
[PMID 8084609] DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
[PMID 24897126] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
[PMID 28946813] Nationwide French study of RET variants detected from 2003 to 2013 suggests a possible influence of polymorphisms as modifiers.
