Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907926
rs121907926
PAX6 ; ELP4
2 0.925 0.080 11 31790722 missense variant T/C snv 0.700 1.000 1 2003 2003
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs121907924
rs121907924
PAX6
1 1.000 0.080 11 31794699 stop gained G/A snv 0.700 0
dbSNP: rs886041222
rs886041222
PAX6
8 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0