Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 6
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 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
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs587777343
STUB1 ; JMJD8
0.925 0.120 16 682232 missense variant C/T snv 5
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1335702493
APTX
0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs730882234
PTRH2
0.925 17 59697725 missense variant T/G snv 4
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv 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
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs121918518
PRKCG
1.000 0.080 19 53889655 missense variant C/G snv 3
rs1320457487
SLC3A1
1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 3
rs200248046
SLC3A1
1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 3
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 3