rs104893807

Orientation

plus

Stabilized

plus

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

Make rs104893807(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30674196

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893807
dbSNP (classic)	rs104893807
ClinGen	rs104893807
ebi	rs104893807
HLI	rs104893807
Exac	rs104893807
Gnomad	rs104893807
Varsome	rs104893807
LitVar	rs104893807
Map	rs104893807
PheGenI	rs104893807
Biobank	rs104893807
1000 genomes	rs104893807
hgdp	rs104893807
ensembl	rs104893807
geneview	rs104893807
scholar	rs104893807
google	rs104893807
pharmgkb	rs104893807
gwascentral	rs104893807
openSNP	rs104893807
23andMe	rs104893807
SNPshot	rs104893807
SNPdbe	rs104893807
MSV3d	rs104893807
GWAS Ctlg	rs104893807

Max Magnitude

7

OMIM	190182
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893807(G;G) rs104893807(T;T)
Alt	rs104893807(G;G) rs104893807(T;T)
Reference	Rs104893807(C;C)
Significance	Pathogenic
Disease	Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30715688C>G; NC_000003.11:g.30715688C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000469243.1, RCV000013330.26,