Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs1563945076
APTX
0.925 0.160 9 32974556 frameshift variant A/- del 4
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 3
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs754081544
MRPL43 ; TWNK
0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 5
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs1424215334
SLC3A1
1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 3
rs148156462
COQ2
0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03 3
rs80358243
MLC1
0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 4
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs80356713
ABCB7
0.925 0.120 X 75070499 missense variant C/A;G snv 3
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 8
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8