Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057516945
TPP1
0.925 0.160 11 6616973 splice donor variant A/C snv 2
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 6
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs1057519464
HEXA
0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 7
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del 7
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins 5
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 6
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 5
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs121907972
HEXA
0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 6
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs121908681
PLA2G6
0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 7
rs1224421127
NDUFAF6
1.000 0.040 8 95052198 missense variant C/G snv 8.0E-06 1
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9