rs761857514, FBN1

N. diseases: 8
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.
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0