Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519743
rs1057519743
CRLF2
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1296957097
rs1296957097
CHEK2
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs20551
rs20551
EP300
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 1.000 1 2011 2011
dbSNP: rs2413739
rs2413739
PACSIN2
6 0.827 0.120 22 43001030 intron variant C/T snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs7286979
rs7286979
EP300
3 0.882 0.120 22 41102623 intron variant G/A snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1051296
rs1051296
SLC19A1
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs138047632
rs138047632
SLC19A1 ; LOC107987304
3 0.882 0.120 21 45525860 missense variant A/G snv 2.4E-03 2.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs569954362
rs569954362
SLC19A1
4 0.851 0.160 21 45530871 synonymous variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs57725551
rs57725551
SLC19A1 ; LOC107987304
3 0.882 0.120 21 45525868 synonymous variant G/T snv 5.3E-03 7.0E-03 0.010 1.000 1 2001 2001
dbSNP: rs762613037
rs762613037
SLC19A1 ; COL18A1
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.030 1.000 3 2010 2015
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2014 2014
dbSNP: rs41320251
rs41320251
ITPA
3 0.882 0.120 20 3213196 missense variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs6021191
rs6021191
NFATC2
5 0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs766916111
rs766916111
ITPA
3 0.882 0.120 20 3223452 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1482545954
rs1482545954
NLRP2
3 0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs6966
rs6966
PPP1R13L
6 0.807 0.160 19 45379704 3 prime UTR variant T/A;G snv 0.18 0.010 1.000 1 2014 2014