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, |