rs1800863
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs1800863(C;G) |
| Make rs1800863(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43120185 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800863 |
| dbSNP (classic) | rs1800863 |
| ClinGen | rs1800863 |
| ebi | rs1800863 |
| HLI | rs1800863 |
| Exac | rs1800863 |
| Gnomad | rs1800863 |
| Varsome | rs1800863 |
| LitVar | rs1800863 |
| Map | rs1800863 |
| PheGenI | rs1800863 |
| Biobank | rs1800863 |
| 1000 genomes | rs1800863 |
| hgdp | rs1800863 |
| ensembl | rs1800863 |
| geneview | rs1800863 |
| scholar | rs1800863 |
| rs1800863 | |
| pharmgkb | rs1800863 |
| gwascentral | rs1800863 |
| openSNP | rs1800863 |
| 23andMe | rs1800863 |
| SNPshot | rs1800863 |
| SNPdbe | rs1800863 |
| MSV3d | rs1800863 |
| GWAS Ctlg | rs1800863 |
| GMAF | 0.1602 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China
[PMID 20532249
] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
[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 | rs1800863(A;A) rs1800863(G;G) |
| Alt | rs1800863(A;A) rs1800863(G;G) |
| Reference | Rs1800863(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | No MEN2 disease not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease Multiple endocrine neoplasia Pheochromocytoma |
| Variation | info |
| Gene | RET |
| CLNDBN | No MEN2 disease not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease, Dominant Multiple endocrine neoplasia Pheochromocytoma |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43615633C>G |
| CLNSRC | HGMD |
| CLNACC | RCV000021879.1, RCV000039053.9, RCV000162948.1, RCV000280812.1, RCV000296421.1, RCV000349734.1, RCV000398445.1, |
[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 27798940] Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.
[PMID 28946813] Nationwide French study of RET variants detected from 2003 to 2013 suggests a possible influence of polymorphisms as modifiers.
