rs730880221

Orientation

plus

Stabilized

plus

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

Make rs730880221(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

218434115

Gene

TGFB2

is a	snp
is	mentioned by
dbSNP	rs730880221
dbSNP (classic)	rs730880221
ClinGen	rs730880221
ebi	rs730880221
HLI	rs730880221
Exac	rs730880221
Gnomad	rs730880221
Varsome	rs730880221
LitVar	rs730880221
Map	rs730880221
PheGenI	rs730880221
Biobank	rs730880221
1000 genomes	rs730880221
hgdp	rs730880221
ensembl	rs730880221
geneview	rs730880221
scholar	rs730880221
google	rs730880221
pharmgkb	rs730880221
gwascentral	rs730880221
openSNP	rs730880221
23andMe	rs730880221
SNPshot	rs730880221
SNPdbe	rs730880221
MSV3d	rs730880221
GWAS Ctlg	rs730880221

Max Magnitude

7

ClinVar
Risk	rs730880221(T;T)
Alt	rs730880221(T;T)
Reference	Rs730880221(C;C)
Significance	Probable-Pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFB2
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000001.10:g.218607457C>T
CLNSRC
CLNACC	RCV000157514.1,