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
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
rs397514640
PAX6
0.882 0.160 11 31802733 missense variant G/A snv 4
rs1131692297
PAX6
0.882 0.080 11 31801653 stop gained G/A snv 3
rs121907914
PAX6
0.882 0.080 11 31801611 stop gained G/A snv 3
rs121907916
PAX6
0.882 0.080 11 31794705 stop gained G/A snv 3
rs1131692318
ELP4 ; PAX6
0.925 0.080 11 31790710 stop gained C/A;G snv 2
rs202186939
FOXD3-AS1 ; FOXD3
0.925 0.080 1 63323417 missense variant C/T snv 1.1E-03 9.3E-04 2
rs151021417
FOXD3 ; FOXD3-AS1
0.925 0.080 1 63323575 missense variant A/C snv 7.2E-05 1.2E-04 2
rs184767331
FOXD3 ; FOXD3-AS1
0.925 0.080 1 63323105 missense variant C/T snv 4.5E-04 4.4E-04 2
rs1131692289
PAX6
0.925 0.080 11 31802705 missense variant T/C snv 2
rs121907919
PAX6
0.925 0.080 11 31800837 missense variant A/T snv 2
rs121907928
PAX6
0.925 0.080 11 31801561 missense variant G/A;C;T snv 2
rs757259413
PAX6
0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06 2
rs759557055
PAX6
0.925 0.120 11 31801704 missense variant C/A;T snv 2
rs878852979
PAX6
0.925 0.080 11 31810826 splice donor variant A/T snv 2
rs200015827
ELP4 ; PAX6
1.000 0.080 11 31790769 missense variant G/C;T snv 4.0E-06; 2.6E-04 1
rs121907912
PAX6
1.000 0.080 11 31800808 stop gained G/A snv 1
rs121907927
PAX6
1.000 0.080 11 31794072 missense variant C/G snv 4.0E-06 1
rs121907929
PAX6
1.000 0.080 11 31793797 stop gained C/T snv 1
rs1565200471
PAX6
1.000 0.080 11 31793719 frameshift variant -/CT delins 1
rs373661718
PAX6
1.000 0.080 11 31790836 missense variant A/C snv 1
rs749244084
PAX6
1.000 0.080 11 31794689 missense variant C/T snv 8.0E-06 1
rs763807196
PAX6
1.000 0.080 11 31801744 synonymous variant G/A snv 1