rs111854391

plus

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

Make rs111854391(C;T)

Make rs111854391(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99138006

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs111854391
dbSNP (classic)	rs111854391
ClinGen	rs111854391
ebi	rs111854391
HLI	rs111854391
Exac	rs111854391
Gnomad	rs111854391
Varsome	rs111854391
LitVar	rs111854391
Map	rs111854391
PheGenI	rs111854391
Biobank	rs111854391
1000 genomes	rs111854391
hgdp	rs111854391
ensembl	rs111854391
geneview	rs111854391
scholar	rs111854391
google	rs111854391
pharmgkb	rs111854391
gwascentral	rs111854391
openSNP	rs111854391
23andMe	rs111854391
SNPshot	rs111854391
SNPdbe	rs111854391
MSV3d	rs111854391
GWAS Ctlg	rs111854391

Max Magnitude

0

OMIM	190181
Desc
Variant	0005
Related	also

ClinVar
Risk	rs111854391(T;T)
Alt	rs111854391(T;T)
Reference	Rs111854391(C;C)
Significance	Other
Disease	Loeys-Dietz syndrome 1 Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection not provided
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome 1 Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection not provided
Reversed	0
HGVS	NC_000009.11:g.101900288C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013350.24, RCV000030540.1, RCV000244262.1, RCV000442105.1,

[PMID 16596670] FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

[PMID 16791849] Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

[PMID 16928994] Aneurysm syndromes caused by mutations in the TGF-beta receptor.

[PMID 18781618] Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.