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: rs1555393508
rs1555393508
FBN1
1.000 0.160 15 48411070 stop gained C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0