rs2075912
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2075912(C;C) |
| Make rs2075912(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 43126769 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2075912 |
| dbSNP (classic) | rs2075912 |
| ClinGen | rs2075912 |
| ebi | rs2075912 |
| HLI | rs2075912 |
| Exac | rs2075912 |
| Gnomad | rs2075912 |
| Varsome | rs2075912 |
| LitVar | rs2075912 |
| Map | rs2075912 |
| PheGenI | rs2075912 |
| Biobank | rs2075912 |
| 1000 genomes | rs2075912 |
| hgdp | rs2075912 |
| ensembl | rs2075912 |
| geneview | rs2075912 |
| scholar | rs2075912 |
| rs2075912 | |
| pharmgkb | rs2075912 |
| gwascentral | rs2075912 |
| openSNP | rs2075912 |
| 23andMe | rs2075912 |
| SNPshot | rs2075912 |
| SNPdbe | rs2075912 |
| MSV3d | rs2075912 |
| GWAS Ctlg | rs2075912 |
| GMAF | 0.2392 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China
| ClinVar | |
|---|---|
| Risk | rs2075912(C;C) |
| Alt | rs2075912(C;C) |
| Reference | Rs2075912(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | RET |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43622217T>C |
| CLNSRC | |
| CLNACC | RCV000151742.2, |
[PMID 27798940] Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.
