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: rs137854456
rs137854456
FBN1
0.925 0.160 15 48487365 missense variant C/A;G;T snv 4.0E-06; 4.0E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 20 1993 2013
dbSNP: rs137854456
rs137854456
FBN1
0.925 0.160 15 48487365 missense variant C/A;G;T snv 4.0E-06; 4.0E-05
CUI: C4016052
Disease: MARFAN SYNDROME, SEVERE CLASSIC
MARFAN SYNDROME, SEVERE CLASSIC 		0.700 0