Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv 8
rs72549387
CYP1B1-AS1 ; CYP1B1
0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 7
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv 6
rs121907913
PAX6
0.827 0.080 11 31802769 missense variant G/C snv 5
rs1131692286
PAX6
0.882 0.080 11 31802767 frameshift variant C/- delins 3
rs121907916
PAX6
0.882 0.080 11 31794705 stop gained G/A snv 3
rs1064792896
CYP1B1
0.925 0.040 2 38071279 frameshift variant CTGCCTGCACTCG/- del 2
rs587778873
CYP1B1
0.925 0.040 2 38071145 frameshift variant TGGCATGAGG/-;TGGCATGAGGTGGCATGAGG delins 2
rs1554982299
ELP4 ; PAX6
0.925 0.080 11 31789982 frameshift variant ACTTGAA/- delins 2
rs1554100953
FOXC1
0.925 0.080 6 1610792 frameshift variant G/- delins 2
rs1057517785
PAX6
0.925 0.080 11 31793521 stop gained G/A;C snv 2
rs1131692284
PAX6
0.925 0.080 11 31806411 start lost T/C;G snv 2
rs1131692304
PAX6
0.925 0.080 11 31800811 stop gained G/A snv 2
rs1131692308
PAX6
0.925 0.080 11 31800703 stop gained G/A snv 2
rs1329112134
PAX6
0.925 0.080 11 31802725 stop gained G/A;T snv 2
rs1554982609
PAX6
0.925 0.080 11 31790828 frameshift variant -/GAGTA delins 2
rs1554983577
PAX6
0.925 0.080 11 31794775 frameshift variant -/G ins 2
rs1554984996
PAX6
0.925 0.080 11 31800719 frameshift variant C/- delins 2
rs1554985024
PAX6
0.925 0.080 11 31800744 frameshift variant C/- delins 2
rs1554985282
PAX6
0.925 0.080 11 31801557 missense variant T/A snv 2
rs1554985305
PAX6
0.925 0.080 11 31801593 stop gained C/A snv 2
rs1554985716
PAX6
0.925 0.080 11 31802706 stop gained G/A snv 2
rs1554986754
PAX6
0.925 0.080 11 31806409 start lost C/A;T snv 2
rs1565245598
PAX6
0.925 0.080 11 31802730 frameshift variant -/C delins 2