Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 8
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
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
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
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 11
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G 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
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
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
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 5