rs137854480, FBN1

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.742 0.200 15 48537629 missense variant G/A snv 0.800 1.000 37 1993 2019
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.742 0.200 15 48537629 missense variant G/A snv 0.800 1.000 6 1994 2012
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.742 0.200 15 48537629 missense variant G/A snv 0.700 1.000 4 2001 2009
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
27 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
23 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.742 0.200 15 48537629 missense variant G/A snv 0.020 1.000 2 2004 2007
Ectopia lentis isolated
CUI: C1851286
Disease: Ectopia lentis isolated
3 0.742 0.200 15 48537629 missense variant G/A snv 0.010 1.000 1 2007 2007