rs193922185, FBN1

N. diseases: 10
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 0.752 0.200 15 48505037 missense variant G/A snv 0.710 1.000 8 1973 2017
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.752 0.200 15 48505037 missense variant G/A snv 0.700 1.000 7 1973 2015
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
27 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
23 0.752 0.200 15 48505037 missense variant G/A snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.752 0.200 15 48505037 missense variant G/A snv 0.010 1.000 1 2017 2017