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: rs747713929
rs747713929
FBN1
1.000 0.160 15 48489983 missense variant C/A;T snv 2.0E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.010 1.000 1 1998 1998