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: rs121907918
rs121907918
PAX6
2 0.925 0.080 11 31800832 missense variant G/A;T snv 0.800 1.000 2 1996 1999
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs587776572
rs587776572
PAX6
1 1.000 11 31806397 splice region variant C/G snv 0.700 0
dbSNP: rs886041222
rs886041222
PAX6
8 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0