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: rs794728323
rs794728323
FBN1
1.000 0.160 15 48411062 frameshift variant TT/-;T;TTT delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0