Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs730882234
PTRH2
0.925 17 59697725 missense variant T/G snv 4
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs1318256630
SPTBN2
11 66708251 missense variant G/A snv 4.1E-06 2
rs876661219
GRIN2B
1.000 12 13571891 missense variant A/C;G snv 2
rs797046006
SPTBN2
11 66715958 missense variant T/C snv 1
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv 3
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs2307441
POLG
0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 6
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs119456965
SIL1
1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 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
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 3
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 3
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 12
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 9