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, |