rs1590
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1590(A;C) |
| Make rs1590(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 99153883 |
| Gene | TGFBR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1590 |
| dbSNP (classic) | rs1590 |
| ClinGen | rs1590 |
| ebi | rs1590 |
| HLI | rs1590 |
| Exac | rs1590 |
| Gnomad | rs1590 |
| Varsome | rs1590 |
| LitVar | rs1590 |
| Map | rs1590 |
| PheGenI | rs1590 |
| Biobank | rs1590 |
| 1000 genomes | rs1590 |
| hgdp | rs1590 |
| ensembl | rs1590 |
| geneview | rs1590 |
| scholar | rs1590 |
| rs1590 | |
| pharmgkb | rs1590 |
| gwascentral | rs1590 |
| openSNP | rs1590 |
| 23andMe | rs1590 |
| SNPshot | rs1590 |
| SNPdbe | rs1590 |
| MSV3d | rs1590 |
| GWAS Ctlg | rs1590 |
| GMAF | 0.3407 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
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 19509225] Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients.
[PMID 20500843] Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs.
| ClinVar | |
|---|---|
| Risk | rs1590(C;C) |
| Alt | rs1590(C;C) |
| Reference | Rs1590(A;A) |
| Significance | Non-pathogenic |
| Disease | Loeys-Dietz syndrome Loeys-Dietz syndrome 1 Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | TGFBR1 |
| CLNDBN | Loeys-Dietz syndrome Loeys-Dietz syndrome 1 Thoracic aortic aneurysm and aortic dissection |
| Reversed | 1 |
| HGVS | NC_000009.11:g.101916165T>G |
| CLNSRC | |
| CLNACC | RCV000291169.1, RCV000327431.1, RCV000381609.1, |
