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: rs864309678
rs864309678
MAF ; LOC101928230
1.000 0.200 16 79599084 missense variant C/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016