rs863223797

plus

Geno	Mag	Summary
(-;C)	7.7	Thoracic aortic aneurysm (potential causative mutation)
(C;C)	0	common in clinvar

Make rs863223797(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

218405178

Gene

TGFB2

is a	snp
is	mentioned by
dbSNP	rs863223797
dbSNP (classic)	rs863223797
ClinGen	rs863223797
ebi	rs863223797
HLI	rs863223797
Exac	rs863223797
Gnomad	rs863223797
Varsome	rs863223797
LitVar	rs863223797
Map	rs863223797
PheGenI	rs863223797
Biobank	rs863223797
1000 genomes	rs863223797
hgdp	rs863223797
ensembl	rs863223797
geneview	rs863223797
scholar	rs863223797
google	rs863223797
pharmgkb	rs863223797
gwascentral	rs863223797
openSNP	rs863223797
23andMe	rs863223797
SNPshot	rs863223797
SNPdbe	rs863223797
MSV3d	rs863223797
GWAS Ctlg	rs863223797

Max Magnitude

7.7

aka c.356delC (p.Pro119Argfs)

Denoted as pathogenic in ClinVar, based on GeneDx information. Independently, in [PMID 26846766], along with one other 'suspicious' mutation, rs757309797, this mutation was observed in the genome of an otherwise healthy young adult who died suddenly.

ClinVar
Risk	rs863223797(-;-)
Alt	rs863223797(-;-)
Reference	Rs863223797(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	TGFB2
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.218578520delC
CLNSRC
CLNACC	RCV000198360.1,