rs1800858
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 0 | probably normal |
| (G;G) | 0 | may predispose somehow to Hirschsprung disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43100520 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800858 |
| dbSNP (classic) | rs1800858 |
| ClinGen | rs1800858 |
| ebi | rs1800858 |
| HLI | rs1800858 |
| Exac | rs1800858 |
| Gnomad | rs1800858 |
| Varsome | rs1800858 |
| LitVar | rs1800858 |
| Map | rs1800858 |
| PheGenI | rs1800858 |
| Biobank | rs1800858 |
| 1000 genomes | rs1800858 |
| hgdp | rs1800858 |
| ensembl | rs1800858 |
| geneview | rs1800858 |
| scholar | rs1800858 |
| rs1800858 | |
| pharmgkb | rs1800858 |
| gwascentral | rs1800858 |
| openSNP | rs1800858 |
| 23andMe | rs1800858 |
| SNPshot | rs1800858 |
| SNPdbe | rs1800858 |
| MSV3d | rs1800858 |
| GWAS Ctlg | rs1800858 |
| Merged from | Rs17857727 |
| GMAF | 0.2842 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China
| ClinVar | |
|---|---|
| Risk | Rs1800858(G;G) |
| Alt | Rs1800858(G;G) |
| Reference | Rs1800858(A;A) |
| Significance | Other |
| Disease | Hirschsprung disease 1 not provided Multiple endocrine neoplasia not specified |
| Variation | info |
| Gene | RET |
| CLNDBN | Hirschsprung disease 1 not provided Multiple endocrine neoplasia, type 2 not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43595968A\x3d; NC_000010.10:g.43595968A>G |
| CLNSRC | OMIM Allelic Variant HGMD |
| CLNACC | RCV000014967.2, RCV000127776.1, RCV000205827.2, RCV000216697.1, RCV000153833.3, |
[PMID 15759212
] Identifying candidate Hirschsprung disease-associated RET variants.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 18091754] Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.
[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 21349203] Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.
[PMID 10521317] Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.
[PMID 10922382] RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
[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
[PMID 24897126] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
