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
rs1057518011
TMEM240
1 1535766 missense variant C/T snv 4
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs149595793
DLG3
1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 3
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs1318256630
SPTBN2
11 66708251 missense variant G/A snv 4.1E-06 2
rs774214806
GRM1
1.000 6 146159536 stop gained C/A;T snv 1.6E-05 2
rs373893038
TRIO
5 14387508 missense variant C/T snv 8.0E-06 4.2E-05 1
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs375244209
HSPB1
1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05 2
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs2307441
POLG
0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 6
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs754081544
MRPL43 ; TWNK
0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 5
rs121908214
CACNA1A
0.925 0.080 19 13230185 missense variant T/G snv 4
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4