Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794728228
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 7 1999 2013
dbSNP: rs794728228
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 1999 2013
dbSNP: rs794728228
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2003 2003
dbSNP: rs794728228
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2003 2003