Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs80356730
TARDBP
0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 7
rs367619008
DPYD
0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 3
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs1057518801
SCN3A
0.851 0.080 2 165130238 missense variant A/G snv 5
rs1310897090
NBAS
1.000 2 15467394 stop gained G/A snv 2
rs368085185
NBAS
1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 2
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs145536528
SLU7
1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 3
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 6
rs200345816
SH2B2 ; CUX1
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 3
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv 5
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5
rs398123001
PUF60
0.925 8 143818378 missense variant G/A snv 4
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16