Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1563945076
APTX
0.925 0.160 9 32974556 frameshift variant A/- del 4
rs1565339091
LOC107984406 ; HEPACAM
1.000 0.200 11 124924796 missense variant T/C snv 4
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv 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
rs1424215334
SLC3A1
1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 3
rs1568440440
CACNA1A
0.925 0.120 19 13228767 stop gained GT/- delins 3
rs80356713
ABCB7
0.925 0.120 X 75070499 missense variant C/A;G snv 3
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins 3
rs121908224
CACNA1A
1.000 0.080 19 13235262 missense variant C/T snv 2
rs397514749
SPTBN2
1.000 0.080 11 66707731 missense variant G/A snv 2
rs79267946
CA8
1.000 0.160 8 60232322 stop gained T/A;C snv 2
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs775141057
LOC100287944 ; POLR3B
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 6
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 7
rs200248046
SLC3A1
1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 3
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs750959420
SETX
1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 2