Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins 3
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1335702493
APTX
0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs1563945076
APTX
0.925 0.160 9 32974556 frameshift variant A/- del 4
rs121908214
CACNA1A
0.925 0.080 19 13230185 missense variant T/G snv 4
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs142157346
FXN
0.882 0.160 9 69053240 missense variant G/T snv 4
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs1565339091
LOC107984406 ; HEPACAM
1.000 0.200 11 124924796 missense variant T/C snv 4
rs80358243
MLC1
0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 4
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs374434303
PNPLA6
0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 4
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs1057518011
TMEM240
1 1535766 missense variant C/T snv 4
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs773372123
LOC105371046 ; IFT140
0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 5
rs754081544
MRPL43 ; TWNK
0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5