Promethease 0.1.82
Rs1040835
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1040835 |
| hapmap | rs1040835 |
| hgdp | rs1040835 |
| ensembl | rs1040835 |
| gopubmed | rs1040835 |
| scholar | rs1040835 |
| rs1040835 | |
| pharmgkb | rs1040835 |
| hgvbaseg2p | rs1040835 |
| medrefsnp | rs1040835 |
| 23andMe | rs1040835 |
| SNP Nexus |
| Gene | GOLGA5 |
| Chromosome | 14 |
| Orientation | minus |
| Position | 92346407 |
| Genotype | Effect |
|---|---|
| rs1040835(A;A)* | ? |
| rs1040835(A;G)* | ? |
| rs1040835(G;G)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | GOLGA5 |
| allele | C |
| frequency | 0.667 |
| sift | TOLERATED |
| HuRef | 1103649130466 |
| Disease Association | A chromosomal aberration involving GOLGA5 is a cause of thyroid papillary carcinomas (PACT) (MIM:188550). Translocation t(10;14)(q11;q32) with RET. The translocation generates the RET/GOLGA5 (PTC5) oncogene which was found in 2 cases of PACT in children exposed to radioactive fallout after Chernobyl. |
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
