Source: UNIPROT

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: rs137854464
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 20 1993 2016
dbSNP: rs137854464
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 1.000 5 1994 2007