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: rs137854457
rs137854457
FBN1
0.925 0.160 15 48428423 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 1993 2017
dbSNP: rs137854457
rs137854457
FBN1
0.925 0.160 15 48428423 missense variant C/G;T snv
CUI: C4016053
Disease: MARFAN SYNDROME, MILD VARIABLE
MARFAN SYNDROME, MILD VARIABLE 		0.700 0