Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs373893038
TRIO
5 14387508 missense variant C/T snv 8.0E-06 4.2E-05 1
rs79267946
CA8
1.000 0.160 8 60232322 stop gained T/A;C snv 2
rs121908224
CACNA1A
1.000 0.080 19 13235262 missense variant C/T snv 2
rs774214806
GRM1
1.000 6 146159536 stop gained C/A;T snv 1.6E-05 2
rs375244209
HSPB1
1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05 2
rs750959420
SETX
1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 2
rs1318256630
SPTBN2
11 66708251 missense variant G/A snv 4.1E-06 2
rs397514749
SPTBN2
1.000 0.080 11 66707731 missense variant G/A snv 2
rs80356713
ABCB7
0.925 0.120 X 75070499 missense variant C/A;G snv 3
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs1568440440
CACNA1A
0.925 0.120 19 13228767 stop gained GT/- delins 3
rs148156462
COQ2
0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03 3
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 3
rs149595793
DLG3
1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 3
rs118204095
HMBS
1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 3
rs118204096
HMBS
1.000 0.160 11 119091432 missense variant G/A snv 3
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 3
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv 3
rs121918518
PRKCG
1.000 0.080 19 53889655 missense variant C/G snv 3
rs267607044
SETX
1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 3
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs119456965
SIL1
1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 3
rs1320457487
SLC3A1
1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 3
rs1424215334
SLC3A1
1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 3
rs200248046
SLC3A1
1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 3