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
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs587777446
IFIH1
0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 11
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 10
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
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
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7