Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs777476179
ALMS1
0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 5
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs1384483492
PRPH ; LOC101927267
0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 2
rs80338747
LRP2
0.925 0.320 2 169205630 missense variant A/G snv 2
rs1057518767
ABCA4
0.851 0.120 1 94098874 missense variant A/T snv 5
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 5
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs777774802
KLKB1 ; CYP4V2
1.000 0.120 4 186209194 missense variant C/T snv 2.8E-05 1.4E-05 2