rs334349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs334349(A;A) |
Make rs334349(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 99152105 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs334349 |
dbSNP (classic) | rs334349 |
ClinGen | rs334349 |
ebi | rs334349 |
HLI | rs334349 |
Exac | rs334349 |
Gnomad | rs334349 |
Varsome | rs334349 |
LitVar | rs334349 |
Map | rs334349 |
PheGenI | rs334349 |
Biobank | rs334349 |
1000 genomes | rs334349 |
hgdp | rs334349 |
ensembl | rs334349 |
geneview | rs334349 |
scholar | rs334349 |
rs334349 | |
pharmgkb | rs334349 |
gwascentral | rs334349 |
openSNP | rs334349 |
23andMe | rs334349 |
SNPshot | rs334349 |
SNPdbe | rs334349 |
MSV3d | rs334349 |
GWAS Ctlg | rs334349 |
GMAF | 0.3356 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 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 | rs334349(A;A) |
Alt | rs334349(A;A) |
Reference | Rs334349(G;G) |
Significance | Non-pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Loeys-Dietz syndrome 1 |
Variation | info |
Gene | TGFBR1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Loeys-Dietz syndrome 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.101914387G>A |
CLNSRC | |
CLNACC | RCV000280999.1, RCV000319749.1, RCV000372077.1, |