rs868

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs868(A;G)

Make rs868(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99149374

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs868
dbSNP (classic)	rs868
ClinGen	rs868
ebi	rs868
HLI	rs868
Exac	rs868
Gnomad	rs868
Varsome	rs868
LitVar	rs868
Map	rs868
PheGenI	rs868
Biobank	rs868
1000 genomes	rs868
hgdp	rs868
ensembl	rs868
geneview	rs868
scholar	rs868
google	rs868
pharmgkb	rs868
gwascentral	rs868
openSNP	rs868
23andMe	rs868
SNPshot	rs868
SNPdbe	rs868
MSV3d	rs868
GWAS Ctlg	rs868

GMAF

0.1414

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

rs868 is a SNP in the transforming growth factor, beta receptor I TGFBR1 gene.

A total of 1,157 Spanish cases with urothelial cell carcinoma of the bladder and 1,157 matched controls were analyzed for TGFBR1 SNP associations, and among patients with muscle-invasive bladder cancer tumors, a significant association between rs868 and disease-specific mortality was found, with an allele dosage effect (p-trend = 0.003). [PMID 19004027 ]

[PMID 19299629 ] Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

[PMID 19356949 ] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

[PMID 19509225 ] Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients.

[PMID 27234654 ] Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

ClinVar
Risk	rs868(G;G)
Alt	rs868(G;G)
Reference	Rs868(A;A)
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.101911656A>G
CLNSRC
CLNACC	RCV000312076.1, RCV000366670.1, RCV000406058.1,