rs794728293

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GGC;GGC)	0	common in clinvar

Make rs794728293(GGC;TGT)

Make rs794728293(TGT;TGT)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48537645

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs794728293
dbSNP (classic)	rs794728293
ClinGen	rs794728293
ebi	rs794728293
HLI	rs794728293
Exac	rs794728293
Gnomad	rs794728293
Varsome	rs794728293
LitVar	rs794728293
Map	rs794728293
PheGenI	rs794728293
Biobank	rs794728293
1000 genomes	rs794728293
hgdp	rs794728293
ensembl	rs794728293
geneview	rs794728293
scholar	rs794728293
google	rs794728293
pharmgkb	rs794728293
gwascentral	rs794728293
openSNP	rs794728293
23andMe	rs794728293
SNPshot	rs794728293
SNPdbe	rs794728293
MSV3d	rs794728293
GWAS Ctlg	rs794728293

Max Magnitude

0

aka c.700_702delGGCinsTGT

ClinVar
Risk	rs794728293(TGT;TGT)
Alt	rs794728293(TGT;TGT)
Reference	Rs794728293(GGC;GGC)
Significance	Probable-Pathogenic
Disease	Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48829842_48829844delGCCinsACA
CLNSRC
CLNACC	RCV000181648.1,