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: rs137854472
rs137854472
FBN1
0.925 0.160 15 48488448 missense variant T/C snv 8.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 20 1993 2013
dbSNP: rs137854472
rs137854472
FBN1
0.925 0.160 15 48488448 missense variant T/C snv 8.0E-06
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		0.700 0