Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1566658823
GCH1
1.000 0.120 14 54844138 missense variant A/G snv 4
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 4
rs796065306
ADCY5
1.000 0.080 3 123319754 missense variant C/T snv 4
rs864309484
ADCY5
1.000 0.080 3 123291354 missense variant A/T snv 4
rs104894442
GCH1
1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 3
rs1057519279
KMT2B
1.000 19 35720980 stop gained C/T snv 3
rs1057519281
KMT2B
1.000 19 35721775 stop gained C/T snv 3
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 3