Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1344706
ZNF804A
0.701 0.160 2 184913701 intron variant A/C;T snv 1
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs864309661
WDR45
1.000 0.080 X 49077715 inframe deletion CCA/- delins 4
rs797046101
WDR45
0.851 0.280 X 49076469 stop gained G/A snv 2
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1105879
UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 2
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs587784491
TUBA1A
0.925 0.240 12 49186832 missense variant C/T snv 4
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 2
rs79977247
TTR
0.776 0.200 18 31592975 missense variant T/C;G snv 2
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs118203682
TSC1
0.882 0.160 9 132902640 stop gained G/A snv 5
rs118203707
TSC1
0.925 0.200 9 132900828 frameshift variant TTTG/- delins 4
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1564493599
TRPM3 ; LOC101927086
1.000 9 70598463 missense variant C/T snv 3
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs78300695
TREX1 ; ATRIP-TREX1 ; ATRIP
0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05 8
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 7