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
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs12252
IFITM3
0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 23
rs17849781
TP53
0.701 0.480 17 7673788 missense variant G/A;C;T snv 22
rs1801252
ADRB1
0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 17
rs1475170339
IGFALS ; SPSB3
0.732 0.240 16 1792325 missense variant T/C;G snv 18
rs1800014
PRNP
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 11
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs1064039
CST3
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 6
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 6
rs62643364
PRNP
0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 7
rs1051169
S100B
0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 5
rs1364050643
REEP1
0.851 0.240 2 86232711 missense variant G/A snv 5