Source: CLINVAR

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: rs1057518883
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 0