Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs878853324
PPT1
0.882 0.160 1 40078579 missense variant A/T snv 5
rs878853322
PPT1
0.925 0.160 1 40078573 missense variant G/A snv 4
rs878853323
PPT1
0.882 0.160 1 40092499 missense variant A/G snv 4
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv 6
rs9637454
KCNMB2 ; KCNMB2-AS1
0.882 0.120 3 178539774 intron variant G/A snv 0.23 3
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs730882147
MED20
0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 5
rs895293055
MED20
0.851 0.080 6 41909351 frameshift variant C/- delins 5
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 8
rs10761482
ANK3
0.851 0.120 10 60325579 intron variant T/C snv 0.70 4
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
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
rs12273363
BDNF
0.807 0.120 11 27723312 intron variant T/C snv 0.16 11
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