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rs868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs868(A;G)
Make rs868(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position99149374
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs868
dbSNP (classic)rs868
ClinGenrs868
ebirs868
HLIrs868
Exacrs868
Gnomadrs868
Varsomers868
LitVarrs868
Maprs868
PheGenIrs868
Biobankrs868
1000 genomesrs868
hgdprs868
ensemblrs868
geneviewrs868
scholarrs868
googlers868
pharmgkbrs868
gwascentralrs868
openSNPrs868
23andMers868
SNPshotrs868
SNPdbers868
MSV3drs868
GWAS Ctlgrs868
GMAF0.1414
Max Magnitude0
? (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 19004027OA-icon.png]


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


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


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


[PMID 27234654OA-icon.png] 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,