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
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs3939286 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 12
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 11
rs2269426
TNXB
0.807 0.280 6 32108722 intron variant G/A snv 0.35 10
rs1420101
IL1RL1 ; IL18R1
0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 8
rs37973
GLCCI1 ; GLCCI1-DT
0.807 0.280 7 7968245 intron variant G/A;C snv 7
rs938448224
STAT5B
0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06 7
rs941934
FLG-AS1
0.851 0.200 1 152417976 intron variant T/A;C snv 5
rs121917894
IFTAP ; RAG2
0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 5
rs2416257
WDR36
0.882 0.160 5 111099792 intron variant C/G;T snv 5
rs4143832 0.925 0.080 5 132527285 intron variant T/G snv 0.76 4
rs587782477
APC
0.882 0.120 5 112775679 missense variant A/T snv 4
rs1217371203
CD86
0.882 0.120 3 122106342 missense variant A/G;T snv 4.0E-06; 4.0E-06 4
rs1060500091
GATA2
0.882 0.120 3 128481887 missense variant A/C snv 4
rs12619285
LOC102725082
1.000 0.040 2 212959321 intron variant A/G snv 0.31 3
rs4431128 1.000 0.040 3 128532835 TF binding site variant C/G;T snv 2
rs148943384
LOC107987046 ; IL33
1.000 0.040 9 6254467 missense variant G/A snv 2.9E-05 7.0E-06 2
rs754092062
PDGFRA
1.000 0.040 4 54258785 missense variant C/T snv 6.0E-05 9.1E-05 2