Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 29
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 9
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 7
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 6
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 6
rs564185858
ADD3
0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05 4
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02 4
rs1060499939
SPAST
0.882 0.120 2 32137172 missense variant G/C;T snv 4
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61 3
rs937726878
PMM2 ; TMEM186
0.882 0.240 16 8797949 splice donor variant G/T snv 1.4E-05 7.0E-06 3
rs1800871
IL19 ; IL10
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 2
rs2069837
IL6-AS1 ; IL6
0.724 0.520 7 22728408 intron variant A/C;G snv 2