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: rs1310678797
rs1310678797
VDR
3 0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1361742125
rs1361742125
NR3C1
3 0.882 0.120 5 143399842 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
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: rs140422742
rs140422742
CYP3A4
3 0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs1412792500
rs1412792500
NR3C1
3 0.882 0.120 5 143400541 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1427331568
rs1427331568
NR3C1
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs143125661
rs143125661
TPMT
3 0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
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: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs1544105
rs1544105
FPGS
4 0.851 0.200 9 127800446 intron variant C/T snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1573613
rs1573613
ETV6
3 0.882 0.120 12 11894684 3 prime UTR variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs17069665
rs17069665
FOXO3
4 0.882 0.120 6 108620265 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800462
rs1800462
TPMT
5 0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03 0.010 1.000 1 2013 2013
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1966862
rs1966862
ARHGAP24
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs200378616
rs200378616
ABCB1
3 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs200890679
rs200890679
MTHFR
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.010 1.000 1 2008 2008
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: 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: 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