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: rs137854475
rs137854475
FBN1
0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 30 1993 2017
dbSNP: rs137854475
rs137854475
FBN1
0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.700 0
dbSNP: rs137854475
rs137854475
FBN1
0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.010 1.000 1 1994 1994