rs334349

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
google	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,