rs1799939
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1799939(A;A) |
| Make rs1799939(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43114671 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799939 |
| dbSNP (classic) | rs1799939 |
| ClinGen | rs1799939 |
| ebi | rs1799939 |
| HLI | rs1799939 |
| Exac | rs1799939 |
| Gnomad | rs1799939 |
| Varsome | rs1799939 |
| LitVar | rs1799939 |
| Map | rs1799939 |
| PheGenI | rs1799939 |
| Biobank | rs1799939 |
| 1000 genomes | rs1799939 |
| hgdp | rs1799939 |
| ensembl | rs1799939 |
| geneview | rs1799939 |
| scholar | rs1799939 |
| rs1799939 | |
| pharmgkb | rs1799939 |
| gwascentral | rs1799939 |
| openSNP | rs1799939 |
| 23andMe | rs1799939 |
| SNPshot | rs1799939 |
| SNPdbe | rs1799939 |
| MSV3d | rs1799939 |
| GWAS Ctlg | rs1799939 |
| GMAF | 0.1547 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs1799939, also known as Gly691Ser, is a variant in the RET gene.
[PMID 19306327] This SNP has been reported to be associated with primary vesicoureteric reflux (pVUR) patients in Quebec, but it was not found in a study of 221 unrelated index cases of pVUR from the Irish population or in 190 full siblings of 160 of the index cases.
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18273880] RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[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 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
| ClinVar | |
|---|---|
| Risk | rs1799939(A;A) |
| Alt | rs1799939(A;A) |
| Reference | Rs1799939(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | No MEN2 disease not provided not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease Pheochromocytoma Multiple endocrine neoplasia |
| Variation | info |
| Gene | RET |
| CLNDBN | No MEN2 disease not provided not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease, Dominant Pheochromocytoma Multiple endocrine neoplasia |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43610119G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000021841.1, RCV000034769.3, RCV000039052.9, RCV000162947.1, RCV000290703.1, RCV000340996.1, RCV000376859.1, RCV000385080.1, |
[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.
