Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1224421127
NDUFAF6
1.000 0.040 8 95052198 missense variant C/G snv 8.0E-06 1
rs751486476
CLN6
0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06 2
rs1057516945
TPP1
0.925 0.160 11 6616973 splice donor variant A/C snv 2
rs869312878
AUTS2
0.882 0.160 7 70766130 frameshift variant -/C delins 3
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 3
rs754609693
ECHS1
0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05 3
rs878853321
GBA
0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06 3
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
rs1397094538
ZNF436-AS1 ; ZNF436
0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 3
rs748190164
HEXA
0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06 4
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv 4
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 5
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 5
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins 5
rs546802775
GNPTAB
0.851 0.240 12 101765329 intron variant TTT/-;TT;TTTT delins 5.1E-06 5
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 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
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 6
rs377510027
DARS1
0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 6
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 6
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 6
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6