Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
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
rs28940877
LOC107984363 ; TYR
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 9
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9