Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs142433332
DARS2
0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 9
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5