rs145105768

Orientation

plus

Stabilized

plus

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

Make rs145105768(C;T)

Make rs145105768(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48412724

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs145105768
dbSNP (classic)	rs145105768
ClinGen	rs145105768
ebi	rs145105768
HLI	rs145105768
Exac	rs145105768
Gnomad	rs145105768
Varsome	rs145105768
LitVar	rs145105768
Map	rs145105768
PheGenI	rs145105768
Biobank	rs145105768
1000 genomes	rs145105768
hgdp	rs145105768
ensembl	rs145105768
geneview	rs145105768
scholar	rs145105768
google	rs145105768
pharmgkb	rs145105768
gwascentral	rs145105768
openSNP	rs145105768
23andMe	rs145105768
SNPshot	rs145105768
SNPdbe	rs145105768
MSV3d	rs145105768
GWAS Ctlg	rs145105768

Max Magnitude

0

ClinVar
Risk	rs145105768(G;G) rs145105768(T;T)
Alt	rs145105768(G;G) rs145105768(T;T)
Reference	Rs145105768(C;C)
Significance	Probable-Pathogenic
Disease	not specified Thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Acromicric dysplasia Geleophysic dysplasia MASS syndrome Marfan syndrome Ectopia lentis Stiff skin syndrome
Variation	info
Gene	FBN1
CLNDBN	not specified Thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Acromicric dysplasia Geleophysic dysplasia MASS syndrome Marfan syndrome Ectopia lentis Stiff skin syndrome
Reversed	0
HGVS	NC_000015.9:g.48704921C>T
CLNSRC
CLNACC	RCV000035284.2, RCV000181626.3, RCV000280634.1, RCV000284299.1, RCV000338124.1, RCV000341683.1, RCV000372736.1, RCV000397502.1, RCV000400824.1,