rs146726731

Orientation

plus

Stabilized

plus

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

Make rs146726731(C;T)

Make rs146726731(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48520779

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs146726731
dbSNP (classic)	rs146726731
ClinGen	rs146726731
ebi	rs146726731
HLI	rs146726731
Exac	rs146726731
Gnomad	rs146726731
Varsome	rs146726731
LitVar	rs146726731
Map	rs146726731
PheGenI	rs146726731
Biobank	rs146726731
1000 genomes	rs146726731
hgdp	rs146726731
ensembl	rs146726731
geneview	rs146726731
scholar	rs146726731
google	rs146726731
pharmgkb	rs146726731
gwascentral	rs146726731
openSNP	rs146726731
23andMe	rs146726731
SNPshot	rs146726731
SNPdbe	rs146726731
MSV3d	rs146726731
GWAS Ctlg	rs146726731

Max Magnitude

0

ClinVar
Risk	rs146726731(T;T)
Alt	rs146726731(T;T)
Reference	Rs146726731(C;C)
Significance	Other
Disease	Marfan syndrome not specified Acromicric dysplasia Geleophysic dysplasia Ectopia lentis Weill-Marchesani syndrome Stiff skin syndrome Thoracic aortic aneurysm and aortic dissection MASS syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified Acromicric dysplasia Geleophysic dysplasia Ectopia lentis Weill-Marchesani syndrome Stiff skin syndrome Thoracic aortic aneurysm and aortic dissection MASS syndrome
Reversed	0
HGVS	NC_000015.9:g.48812976C>T
CLNSRC
CLNACC	RCV000148500.2, RCV000181421.4, RCV000284823.1, RCV000307377.1, RCV000315057.1, RCV000364336.1, RCV000393539.1, RCV000393542.1, RCV000404755.1, RCV000463596.1,