Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1280914556
KHDRBS1
1 32014269 missense variant A/G snv 2.1E-05 2
rs1467252662
GLRA1 ; LOC112267935
5 151851530 missense variant G/T snv 4.0E-06 2
rs756915170
NUP62 ; IL4I1
19 49909654 missense variant T/C snv 4.0E-06 2
rs13963
CLEC3B ; EXOSC7
3 45035631 missense variant G/A snv 0.49 0.43 1
rs1457713736
CTSB
8 11850867 stop gained C/T snv 7.0E-06 1
rs1471980111
DNAH8
6 38737948 missense variant G/A snv 4.1E-06 7.0E-06 1
rs374651285
ALB
4 73406645 missense variant G/A snv 1
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 5
rs1805032
CACNB4
1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06 3
rs74315322
HAX1
1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 3
rs121913223
DHFR
1.000 0.040 5 80633904 missense variant T/A snv 4.0E-06 2
rs749191312
RBBP9
1.000 0.080 20 18497075 synonymous variant C/T snv 4.0E-06 2
rs771884087
LOC105372630 ; SLPI
1.000 0.080 20 45253726 synonymous variant T/C snv 2
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs267607102
TARDBP
0.851 0.120 1 11022196 missense variant A/G snv 5
rs28939711
CUTC ; COX15
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 5
rs80356717
TARDBP
0.851 0.120 1 11018836 missense variant A/G snv 5
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 4
rs121918413
LOC112267935 ; GLRA1
1.000 0.120 5 151851470 missense variant G/T snv 3
rs62643364
PRNP
0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 7
rs121434444
KIF5A
0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06 4
rs398122370
PRNP
0.925 0.160 20 4699851 missense variant G/C snv 4
rs80358261
NPC2
0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 3
rs1800014
PRNP
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 11
rs1064039
CST3
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 6