Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519743
CRLF2
0.827 0.120 Y 1196852 missense variant A/C snv 6
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11
rs20551
EP300
0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 10
rs2413739
PACSIN2
0.827 0.120 22 43001030 intron variant C/T snv 0.43 6
rs1296957097
CHEK2
0.882 0.120 22 28719401 missense variant A/G snv 3
rs7286979
EP300
0.882 0.120 22 41102623 intron variant G/A snv 0.26 3
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs762613037
SLC19A1 ; COL18A1
0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 7
rs569954362
SLC19A1
0.851 0.160 21 45530871 synonymous variant G/A snv 4
rs1051296
SLC19A1
0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 3
rs138047632
LOC107987304 ; SLC19A1
0.882 0.120 21 45525860 missense variant A/G snv 2.4E-03 2.2E-03 3
rs57725551
LOC107987304 ; SLC19A1
0.882 0.120 21 45525868 synonymous variant G/T snv 5.3E-03 7.0E-03 3
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs6021191
NFATC2
0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02 5
rs41320251
ITPA
0.882 0.120 20 3213196 missense variant C/A;G snv 3
rs766916111
ITPA
0.882 0.120 20 3223452 missense variant T/C snv 4.0E-06 7.0E-06 3
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs2043211
CARD8
0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs6966
PPP1R13L
0.807 0.160 19 45379704 3 prime UTR variant T/A;G snv 0.18 6
rs1482545954
NLRP2
0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 3