Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 4
rs104894884
NDUFA1 ; RNF113A
0.882 0.040 X 119871933 missense variant G/C snv 4
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs1057516064
ND3 ; COX3 ; ATP6 ; ND4L ; ND4
0.925 0.120 MT 9237 missense variant G/A snv 3
rs1057517718
CLCN7
0.882 0.160 16 1447498 missense variant T/C snv 4
rs1057517846
WWOX
1.000 16 78108446 stop gained G/A snv 2
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs1057518777
UBE3A ; SNHG14
15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 2
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv 2
rs1057518801
SCN3A
0.851 0.080 2 165130238 missense variant A/G snv 5
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv 5
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5
rs121908869
TSHR ; CEP128
0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 5
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
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
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs1285524167
ABCC8
0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 8