rs111426349

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7	Loeys-Dietz Syndrome

Make rs111426349(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99149252

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs111426349
dbSNP (classic)	rs111426349
ClinGen	rs111426349
ebi	rs111426349
HLI	rs111426349
Exac	rs111426349
Gnomad	rs111426349
Varsome	rs111426349
LitVar	rs111426349
Map	rs111426349
PheGenI	rs111426349
Biobank	rs111426349
1000 genomes	rs111426349
hgdp	rs111426349
ensembl	rs111426349
geneview	rs111426349
scholar	rs111426349
google	rs111426349
pharmgkb	rs111426349
gwascentral	rs111426349
openSNP	rs111426349
23andMe	rs111426349
SNPshot	rs111426349
SNPdbe	rs111426349
MSV3d	rs111426349
GWAS Ctlg	rs111426349

Max Magnitude

7

OMIM	190181
Desc
Variant	0007
Related	also

ClinVar
Risk	rs111426349(T;T)
Alt	rs111426349(T;T)
Reference	Rs111426349(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000009.11:g.101911534C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013352.18, RCV000200764.3, RCV000211856.1, RCV000251089.1,