rs730880223

Orientation

plus

Stabilized

plus

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

Make rs730880223(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

99149237

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs730880223
dbSNP (classic)	rs730880223
ClinGen	rs730880223
ebi	rs730880223
HLI	rs730880223
Exac	rs730880223
Gnomad	rs730880223
Varsome	rs730880223
LitVar	rs730880223
Map	rs730880223
PheGenI	rs730880223
Biobank	rs730880223
1000 genomes	rs730880223
hgdp	rs730880223
ensembl	rs730880223
geneview	rs730880223
scholar	rs730880223
google	rs730880223
pharmgkb	rs730880223
gwascentral	rs730880223
openSNP	rs730880223
23andMe	rs730880223
SNPshot	rs730880223
SNPdbe	rs730880223
MSV3d	rs730880223
GWAS Ctlg	rs730880223

Max Magnitude

7

ClinVar
Risk	rs730880223(G;G)
Alt	rs730880223(G;G)
Reference	Rs730880223(A;A)
Significance	Probable-Pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000009.11:g.101911519A>G
CLNSRC
CLNACC	RCV000157517.1,