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: rs869025417
rs869025417
FBN1
1.000 0.160 15 48411267 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 1 2002 2002