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: rs369058466
rs369058466
FBN1
1.000 0.160 15 48434634 missense variant G/A;C snv 1.5E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0