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
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
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
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
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
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 13
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 9
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4
rs80338937
SH3TC2
0.925 0.080 5 149006955 stop gained G/A snv 4
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 4
rs151103940
OPA1
0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 3
rs398123631
COL6A1
0.925 0.120 21 45990827 splice donor variant G/A snv 2
rs121909093
DNM2
0.925 0.080 19 10812315 missense variant G/A;T snv 2
rs119482082
SPTLC1
0.925 0.080 9 92080044 missense variant A/C snv 2
rs61734216
MAL
1.000 2 95053409 missense variant A/G snv 1
rs140992482
MPV17
1.000 2 27313058 missense variant C/T snv 2.4E-05 1.4E-05 1