rs727503054, FBN1

N. diseases: 15
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 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 1.000 14 1999 2016
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 1.000 8 1999 2019
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Aneurysm of ascending aorta
CUI: C0856747
Disease: Aneurysm of ascending aorta
16 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Aortic Aneurysm
CUI: C0003486
Disease: Aortic Aneurysm
19 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
27 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
23 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0