Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs57095329
MIR3142HG
0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 25
rs4746
GLO1
0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 21
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs398122403
SYNJ1
0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 11
rs717620
ABCC2
0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 10
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs3812718
SCN1A-AS1 ; SCN1A
0.776 0.240 2 166053034 splice region variant C/T snv 0.48 8
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs122460159
CDKL5
0.807 0.200 X 18564496 missense variant C/T snv 6
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5
rs137852776
EFHC1
0.827 0.080 6 52452799 missense variant T/C snv 3.5E-03 2.4E-03 5
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs762472005
SACM1L
0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 5
rs1049346
GLO1
0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54 3
rs796052551
GRIN2A
0.882 0.040 16 9768997 missense variant T/C snv 3
rs786205867
KCND3
0.882 0.080 1 111787039 missense variant C/T snv 3
rs887386390
L2HGDH
0.925 0.120 14 50283990 missense variant T/C snv 3
rs387906683
SCN2A
0.882 0.040 2 165297053 stop gained C/T snv 3