rs727503057, FBN1

N. diseases: 16
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 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 1.000 16 1973 2015
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 1.000 13 1973 2015
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
13 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Dissection of aorta
CUI: C0340643
Disease: Dissection of aorta
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
27 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
23 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0