Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121907986
HEXB
0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 3
rs746681765
SLC25A46
0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 3
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs61755771
PRPH2
0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 5
rs786205579
PRPH2
0.925 0.120 6 42721838 missense variant C/T snv 2
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 5
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 4
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 9
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9
rs61754381
LOC107984363 ; TYR
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 8
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 13
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv 4
rs1384483492
PRPH ; LOC101927267
0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 2