rs334348

plus

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

Make rs334348(A;G)

Make rs334348(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99150189

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs334348
dbSNP (classic)	rs334348
ClinGen	rs334348
ebi	rs334348
HLI	rs334348
Exac	rs334348
Gnomad	rs334348
Varsome	rs334348
LitVar	rs334348
Map	rs334348
PheGenI	rs334348
Biobank	rs334348
1000 genomes	rs334348
hgdp	rs334348
ensembl	rs334348
geneview	rs334348
scholar	rs334348
google	rs334348
pharmgkb	rs334348
gwascentral	rs334348
openSNP	rs334348
23andMe	rs334348
SNPshot	rs334348
SNPdbe	rs334348
MSV3d	rs334348
GWAS Ctlg	rs334348

GMAF

0.3421

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 20332227 ] Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility

[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	rs334348(G;G)
Alt	rs334348(G;G)
Reference	Rs334348(A;A)
Significance	Non-pathogenic
Disease	Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1
Reversed	0
HGVS	NC_000009.11:g.101912471A>G
CLNSRC
CLNACC	RCV000267995.1, RCV000325466.1, RCV000382288.1,