Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853337
CDH23
10 71805841 stop gained C/G;T snv 4.0E-06 1
rs147346345
CDHR1
1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 2
rs756678484
CDHR1
1.000 10 84211139 frameshift variant G/- delins 6.0E-05 2
rs1554857529
CDHR1
10 84211128 missense variant A/G snv 1
rs878853347
CDHR1
10 84196622 frameshift variant -/C delins 1
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 10
rs747835249
CEP290
0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 4
rs371496675
CEP290
12 88117076 stop gained A/T snv 1.7E-05 1.4E-05 1
rs878853361
CEP290
12 88083858 stop gained G/A snv 1
rs878853362
CEP290
12 88093897 frameshift variant TA/- delins 4.0E-06 1
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 7
rs569826109
CERKL
1.000 0.080 2 181604002 missense variant G/A;T snv 5.2E-05; 5.2E-05 2
rs1553512879
CERKL
2 181544799 splice region variant G/C snv 1
rs201186440
CERKL
2 181656814 stop gained C/A;T snv 1.3E-04 1
rs750151209
CERKL
2 181548785 frameshift variant AT/- del 1.2E-05 1
rs748531024
CFAP410
1.000 0.080 21 44339161 frameshift variant -/TGCACGCTGTGCAGCT ins 4.4E-05; 2.2E-05 7.7E-05 2
rs567435284
CFAP410
21 44333137 missense variant C/A;G;T snv 4.1E-06; 5.4E-05 1
rs1555955061
CHM
X 85965588 intron variant T/C snv 2
rs878853379
CLRN1-AS1 ; CLRN1
3 150972611 stop gained C/T snv 1
rs757470958
CNGA3
2 98380207 stop gained G/A snv 4.0E-06 1.4E-05 1
rs878853394
CNGB1
1.000 0.080 16 57964158 stop gained G/A snv 2
rs760430056
CNGB1
16 57904824 frameshift variant C/-;CC delins 1
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 8
rs778612831
COL18A1
21 45488416 splice acceptor variant A/G snv 4.0E-06 7.0E-06 1