Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs121434621
OPN1LW
0.882 0.120 X 154154602 missense variant T/C snv 3
rs104894914
OPN1MW
0.851 0.120 X 154191716 missense variant T/C snv 4
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs80338747
LRP2
0.925 0.320 2 169205630 missense variant A/G snv 2
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 5
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs777774802
KLKB1 ; CYP4V2
1.000 0.120 4 186209194 missense variant C/T snv 2.8E-05 1.4E-05 2
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78