Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799971
OPRM1
0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs2287622
ABCB11
0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 16
rs757075712
TFAM
0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 15
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 8
rs2230028
ABCB4
0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 5
rs72552778
ABCB4
0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 5
rs886043118
STAT1
0.925 0.040 2 191009916 frameshift variant T/- delins 5
rs113090017
NR1H4
0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1568793309
JAG1
0.882 0.120 20 10643851 frameshift variant G/- del 3
rs1214110864
ABCB4
1.000 0.040 7 87408071 missense variant A/T snv 2
rs121908106
MYO5B
0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06 2
rs1007211
INSRR ; NTRK1
1.000 0.040 1 156860987 missense variant G/A snv 7.5E-03 9.4E-03 1
rs1310517469
NPC1
1.000 0.040 18 23535546 missense variant C/A snv 4.0E-06 1