Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853321
GBA
0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06 3
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs869312878
AUTS2
0.882 0.160 7 70766130 frameshift variant -/C delins 3
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs786204585
HEXA
0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 6
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv 4
rs754609693
ECHS1
0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05 3
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs751486476
CLN6
0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06 2
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs748190164
HEXA
0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06 4
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 6
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 20
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs587777446
IFIH1
0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 10
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21