Gene: PAX6 ×
Source: ALL
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: rs644242
rs644242
PAX6
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.030 1.000 3 2011 2018
dbSNP: rs662702
rs662702
PAX6 ; ELP4
3 0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15 0.030 1.000 3 2011 2019
dbSNP: rs2071754
rs2071754
PAX6
1 1.000 0.040 11 31791034 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3026393
rs3026393
PAX6 ; ELP4
2 0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05 0.010 1.000 1 2014 2014