Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 36
rs121918166
OCA2
0.925 0.160 15 27985101 missense variant C/T snv 3.0E-03 3.4E-03 4
rs121908119
WNT10A ; LOC107984111
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 5
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs137852695
PPT1
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 4
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs542489955
LOC105375215 ; FKBP14
0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 6
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 4
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs141949212
OCA2
0.882 0.160 15 27845052 missense variant C/T snv 4.0E-05 2.0E-04 5
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs150940923
THOC6
1.000 0.240 16 3027170 missense variant G/C snv 1.8E-04 2.0E-04 3
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs766667249
PIGQ
1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 3
rs587779406
HEXA
1.000 0.120 15 72346552 synonymous variant G/A snv 8.0E-05 1.0E-04 3
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 3
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs387906639
HARS1 ; DND1
0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05 3
rs377357931
FIG4
1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05 2
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9