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: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0