Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
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
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12