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: rs1568480054
rs1568480054
LIM2
0.925 0.200 19 51380577 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1568480054
rs1568480054
LIM2
0.925 0.200 19 51380577 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0