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: rs267606798
rs267606798
FBN1
0.925 0.160 15 48465825 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs267606798
rs267606798
FBN1
0.925 0.160 15 48465825 missense variant C/T snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		0.700 0