Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs10719
DROSHA
0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs642961 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 14
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 11
rs522616
MMP3
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 10
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 10
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv 10
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 9
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv 8