Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 16
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 13
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 12
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv 11
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs80358284
PRSS23 ; FZD4
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 10
rs28936700
CYP1B1 ; CYP1B1-AS1
0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 9
rs61750172
GUCY2D
0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 8
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 7
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 5
rs886043303
CEP290
0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 5
rs121918632
LOC102724058 ; SCN1A-AS1 ; SCN1A
0.851 0.120 2 165996099 missense variant A/G snv 7.0E-06 5
rs1553348960
LOC112268416 ; EFEMP1
0.882 0.080 2 55870851 missense variant A/G snv 5
rs151045328
USH1C
0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05 5
rs539612316
ALMS1
0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 4
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv 4
rs147394623
DHDDS
0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 4
rs763544450
ERG
1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 4