rs104893811

Orientation

plus

Stabilized

plus

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

Make rs104893811(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30674228

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893811
dbSNP (classic)	rs104893811
ClinGen	rs104893811
ebi	rs104893811
HLI	rs104893811
Exac	rs104893811
Gnomad	rs104893811
Varsome	rs104893811
LitVar	rs104893811
Map	rs104893811
PheGenI	rs104893811
Biobank	rs104893811
1000 genomes	rs104893811
hgdp	rs104893811
ensembl	rs104893811
geneview	rs104893811
scholar	rs104893811
google	rs104893811
pharmgkb	rs104893811
gwascentral	rs104893811
openSNP	rs104893811
23andMe	rs104893811
SNPshot	rs104893811
SNPdbe	rs104893811
MSV3d	rs104893811
GWAS Ctlg	rs104893811

Max Magnitude

7

OMIM	190182
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104893811(T;T)
Alt	rs104893811(T;T)
Reference	Rs104893811(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2 not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2 not provided Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000003.11:g.30715720C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013339.23, RCV000199227.1, RCV000252297.1,