Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 46
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 29
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 5
rs62636275
CRB1
0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 3
rs12193446
LAMA2 ; LOC102723409
0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 3
rs17648524
RBFOX1
0.882 0.040 16 7409682 intron variant G/C snv 0.29 3
rs10089517 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 2
rs11073060 1.000 0.040 15 34697650 intergenic variant C/A snv 0.41 2
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 2
rs2352179
GRID1
1.000 0.040 10 86030323 intron variant C/T snv 0.20 1