rs7871490
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs7871490(G;G) |
| Make rs7871490(G;T) |
| Make rs7871490(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 99151408 |
| Gene | TGFBR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7871490 |
| dbSNP (classic) | rs7871490 |
| ClinGen | rs7871490 |
| ebi | rs7871490 |
| HLI | rs7871490 |
| Exac | rs7871490 |
| Gnomad | rs7871490 |
| Varsome | rs7871490 |
| LitVar | rs7871490 |
| Map | rs7871490 |
| PheGenI | rs7871490 |
| Biobank | rs7871490 |
| 1000 genomes | rs7871490 |
| hgdp | rs7871490 |
| ensembl | rs7871490 |
| geneview | rs7871490 |
| scholar | rs7871490 |
| rs7871490 | |
| pharmgkb | rs7871490 |
| gwascentral | rs7871490 |
| openSNP | rs7871490 |
| 23andMe | rs7871490 |
| SNPshot | rs7871490 |
| SNPdbe | rs7871490 |
| MSV3d | rs7871490 |
| GWAS Ctlg | rs7871490 |
| Max Magnitude | 0 |
10.1126 appears relevant to colon cancer rs334348, rs334349 and rs1590 (in total linkage disequilibrium with each other) and a fourth marker, rs7871490
[PMID 18703712
] Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.
[PMID 20500843] Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs.
| ClinVar | |
|---|---|
| Risk | rs7871490(G;G) |
| Alt | rs7871490(G;G) |
| Reference | rs7871490(T;T) |
| Significance | Unknown |
| Disease | Loeys-Dietz syndrome 1 Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | TGFBR1 |
| CLNDBN | Loeys-Dietz syndrome 1 Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
| Reversed | 0 |
| HGVS | NC_000009.11:g.101913690T>G |
| CLNSRC | |
| CLNACC | RCV000266960.1, RCV000307304.1, RCV000361934.1, |
