Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199583537
LRP2
2 169170596 missense variant C/T snv 2.5E-04 9.8E-05 1
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs878854402
TBL1XR1
0.851 0.280 3 177033050 missense variant T/C snv 6
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 3
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3
rs1378981995
ARL13B
0.925 0.200 3 94003751 missense variant G/A snv 7.0E-06 3
rs1287153074
FOXP1
1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06 2
rs1294642759
FOXP1
1.000 0.080 3 70959372 missense variant C/T snv 2
rs745986648
SGO1-AS1 ; SGO1
1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 2
rs150263896
ZBTB20
3 114339010 missense variant C/T snv 1.1E-05 7.0E-06 1
rs879255635
ZBTB20
3 114339384 missense variant G/A snv 1
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs747138999
GABRA1
1.000 0.040 5 161895753 missense variant G/T snv 2
rs74900327
SMN2
1.000 0.120 5 70049747 missense variant T/C snv 2
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs370667926
MED23
1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 2
rs761249181
COL9A1
6 70252139 missense variant C/T snv 1.6E-05 1
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5