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
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
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
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
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
rs1060499939
SPAST
0.882 0.120 2 32137172 missense variant G/C;T snv 4
rs2069837
IL6-AS1 ; IL6
0.724 0.520 7 22728408 intron variant A/C;G snv 2
rs767399782
TUBB4A
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06 2
rs1057519583
STN1
0.882 0.160 10 103900115 missense variant C/G snv 1
rs121918399
APOE
0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06 1
rs3024490
IL10 ; IL19
0.742 0.520 1 206771966 intron variant A/C;G;T snv 1
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 1
rs59007384
TOMM40
0.851 0.080 19 44893408 intron variant G/A;T snv 1
rs765462548
STN1
0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05 1
rs937726878
PMM2 ; TMEM186
0.882 0.240 16 8797949 splice donor variant G/T snv 1.4E-05 7.0E-06 3
rs564185858
ADD3
0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05 4