rs113001196, FBN1

N. diseases: 5
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 7 2001 2018
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 6 2001 2018