Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906728
UBE2A
1.000 X 119574743 missense variant G/A snv 2
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 3
rs140032597
UPF3B
0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 3
rs762578331
UPF3B
0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 3
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 3
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs370304886
SPTAN1
9 128582740 missense variant G/A;C snv 4.0E-06 1
rs1438466809
KCNJ1
11 128840191 missense variant C/T snv 4.0E-06 2
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv 2
rs370667926
MED23
1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 2
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 5
rs672601376
LOC105369668 ; GRIN2B
0.925 0.040 12 13608760 missense variant A/C snv 3
rs672601378
GRIN2B ; LOC105369668
0.882 0.040 12 13615149 missense variant C/T snv 4
rs1464216639
MAN1B1
1.000 9 137106289 stop gained G/A snv 6.1E-06 2
rs758252808
HNMT
1.000 2 137970206 missense variant G/A snv 4.1E-06 2
rs745756308
HNMT ; LOC107985948
1.000 2 138013874 missense variant T/C snv 4.0E-06 2
rs6511901
CC2D1A
1.000 0.200 19 13916839 intron variant C/T snv 0.39 2
rs10410239
CC2D1A
1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 3