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rs334349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs334349(A;A)
Make rs334349(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position99152105
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs334349
dbSNP (classic)rs334349
ClinGenrs334349
ebirs334349
HLIrs334349
Exacrs334349
Gnomadrs334349
Varsomers334349
LitVarrs334349
Maprs334349
PheGenIrs334349
Biobankrs334349
1000 genomesrs334349
hgdprs334349
ensemblrs334349
geneviewrs334349
scholarrs334349
googlers334349
pharmgkbrs334349
gwascentralrs334349
openSNPrs334349
23andMers334349
SNPshotrs334349
SNPdbers334349
MSV3drs334349
GWAS Ctlgrs334349
GMAF0.3356
Max Magnitude0
? (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 18703712OA-icon.png] Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.


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


[PMID 20500843OA-icon.png] 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,