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: rs111534978
rs111534978
NHS
1.000 0.200 X 17727793 stop gained C/A;T snv 4.4E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs864309679
rs864309679
NHS
1.000 0.200 X 17726875 frameshift variant G/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016