Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs2298383
ADORA2A-AS1 ; ADORA2A ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 11
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 8
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 7
rs1562931936
KMT2E
1.000 7 105107527 stop gained C/T snv 5
rs113994049
EIF2B5
0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-04 4
rs763868966
GFAP
1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 4
rs1555228665
SCN8A
0.882 0.080 12 51788702 missense variant T/C snv 4
rs886044717
KCNT1
0.925 0.040 9 135779423 missense variant T/A snv 3
rs184607650
EIF2B4
1.000 0.080 2 27367140 missense variant G/C snv 5.1E-04 4.7E-04 2
rs368243788
EIF2B4 ; SNX17
1.000 0.080 2 27368724 missense variant C/A;T snv 4.0E-06; 2.0E-04 2
rs199422224
NDUFS1
1.000 2 206145009 missense variant T/C snv 4.0E-06 7.0E-06 2
rs1181554646
AARS2
6 44311393 stop gained A/C snv 4.0E-06 1
rs200105202
AARS2
6 44311148 missense variant G/A snv 8.8E-05 7.0E-05 1
rs757982865
IK ; NDUFA2 ; MIR3655 ; TMCO6
5 140647330 missense variant T/G snv 4.0E-06 1