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: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0