rs727503475

Orientation

plus

Stabilized

plus

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

Make rs727503475(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

30688512

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs727503475
dbSNP (classic)	rs727503475
ClinGen	rs727503475
ebi	rs727503475
HLI	rs727503475
Exac	rs727503475
Gnomad	rs727503475
Varsome	rs727503475
LitVar	rs727503475
Map	rs727503475
PheGenI	rs727503475
Biobank	rs727503475
1000 genomes	rs727503475
hgdp	rs727503475
ensembl	rs727503475
geneview	rs727503475
scholar	rs727503475
google	rs727503475
pharmgkb	rs727503475
gwascentral	rs727503475
openSNP	rs727503475
23andMe	rs727503475
SNPshot	rs727503475
SNPdbe	rs727503475
MSV3d	rs727503475
GWAS Ctlg	rs727503475

Max Magnitude

7

ClinVar
Risk	rs727503475(A;A)
Alt	rs727503475(A;A)
Reference	Rs727503475(G;G)
Significance	Probable-Pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000003.11:g.30730004G>A
CLNSRC
CLNACC	RCV000152011.1,