Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 3
rs552184470
GUCY2D
1.000 0.080 17 8003171 inframe deletion TCTGCT/- delins 1.8E-03 1.9E-03 2
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs121907986
HEXB
0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 3
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs61754381
LOC107984363 ; TYR
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 8
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs142248415
MANBA
1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04 1
rs781584789
MANBA
1.000 0.080 4 102639814 missense variant C/T snv 8.8E-05 1.1E-04 1
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 8
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 6
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs1057518836
NDP ; NDP-AS1
0.882 0.120 X 43949887 missense variant G/A snv 4
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64