rs104893819

Orientation

plus

Stabilized

plus

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

Make rs104893819(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30688470

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893819
dbSNP (classic)	rs104893819
ClinGen	rs104893819
ebi	rs104893819
HLI	rs104893819
Exac	rs104893819
Gnomad	rs104893819
Varsome	rs104893819
LitVar	rs104893819
Map	rs104893819
PheGenI	rs104893819
Biobank	rs104893819
1000 genomes	rs104893819
hgdp	rs104893819
ensembl	rs104893819
geneview	rs104893819
scholar	rs104893819
google	rs104893819
pharmgkb	rs104893819
gwascentral	rs104893819
openSNP	rs104893819
23andMe	rs104893819
SNPshot	rs104893819
SNPdbe	rs104893819
MSV3d	rs104893819
GWAS Ctlg	rs104893819

Max Magnitude

7

OMIM	190182
Desc
Variant	0019
Related	also

ClinVar
Risk	rs104893819(T;T)
Alt	rs104893819(T;T)
Reference	Rs104893819(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2 Loeys-Dietz syndrome not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2 Loeys-Dietz syndrome not provided Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000003.11:g.30729962C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013344.24, RCV000157519.1, RCV000195964.1, RCV000253575.1,