Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs80356702
CLCN1
0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 9
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs201892814
CAPN3
1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 8
rs1057518422
TAB2
0.851 0.240 6 149378954 stop gained C/T snv 7
rs1052954321
ALPK1
0.882 4 112427580 missense variant C/T snv 6
rs794727411
CACNA1A
0.851 0.160 19 13261526 missense variant C/G;T snv 5
rs148292941
B4GALT3 ; PPOX
1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05 4
rs1555728965
NOTCH3
0.925 0.080 19 15188277 missense variant A/C snv 4
rs907041830
EIF2B5
1.000 0.040 3 184140584 missense variant A/G;T snv 4.0E-06 3