Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs2267437
DESI1 ; XRCC6
0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs2071746
HMOX1
0.708 0.320 22 35380679 intron variant A/T snv 0.49 18
rs3747093
YDJC
0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs5753618
EIF4ENIF1 ; DRG1
0.790 0.080 22 31442532 intron variant C/T snv 0.20 9
rs2236142
HSCB ; CHEK2
0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 6
rs540635787
CHEK2
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 4
rs9620817
CHEK2
0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02 4
rs150742660
NCAPH2 ; SCO2
0.925 0.080 22 50523735 missense variant A/G snv 8.0E-06 3
rs1555909666
EP300
0.925 0.200 22 41151998 stop gained G/T snv 2
rs1569118537
EP300
0.925 0.200 22 41172631 stop gained C/T snv 2
rs373001
MIR301B ; MIR130B
0.925 0.080 22 21653137 intron variant C/G;T snv 2
rs5762748
CHEK2
0.925 0.080 22 28694902 intron variant G/A snv 6.3E-02 2
rs5995355
NCF4-AS1
0.925 0.080 22 36855419 intron variant A/G;T snv 2
rs1165966405
PLA2G6
1.000 0.080 22 38169236 missense variant T/A;C snv 1.4E-05 1
rs1318162463
PPM1F
1.000 0.080 22 21931152 missense variant C/T snv 4.0E-06 1
rs137853038
EP300
1.000 0.080 22 41137768 stop gained C/T snv 1
rs28937578
EP300-AS1 ; EP300
1.000 0.080 22 41178373 missense variant C/A;T snv 8.0E-06 1
rs361863
ISX
1.000 0.080 22 35067169 missense variant A/G snv 0.71 0.73 1
rs376497527
PLA2G6
1.000 0.080 22 38129537 missense variant G/C snv 7.0E-06 1
rs7286680
TCN2
1.000 0.080 22 30622574 intron variant T/G snv 0.36 1
rs765594577
SF3A1
1.000 0.080 22 30339001 missense variant G/A snv 4.0E-06 1.4E-05 1
rs777851029
SMTN
1.000 0.080 22 31096781 missense variant G/A;C snv 1.5E-05; 4.9E-06 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13