Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 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
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
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
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
rs786204585
HEXA
0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 6
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins 5
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 5
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs553522118
TPP1
0.882 0.160 11 6617338 stop gained G/A;T snv 5
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv 4
rs1568427678
GCDH
0.882 0.160 19 12896243 missense variant G/C snv 3
rs61748411
MECP2
0.925 0.120 X 154031356 missense variant T/C snv 3
rs869312878
AUTS2
0.882 0.160 7 70766130 frameshift variant -/C delins 3
rs1057516945
TPP1
0.925 0.160 11 6616973 splice donor variant A/C snv 2
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
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10