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: rs3838646
rs3838646
TTTY14
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.010 < 0.001 1 2014 2014
dbSNP: rs52812045
rs52812045
TTTY14
7 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.020 1.000 2 2018 2019
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.020 1.000 2 2018 2019
dbSNP: rs1057519786
rs1057519786
ARAF
5 0.882 0.160 X 47566722 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.010 1.000 1 2018 2018
dbSNP: rs137852593
rs137852593
AR
8 0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs141425171
rs141425171
AR
3 1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06 0.010 1.000 1 1999 1999
dbSNP: rs200111236
rs200111236
G6PD
5 0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2016 2016
dbSNP: rs78478128
rs78478128
G6PD
7 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 1.000 9 2006 2013
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.070 1.000 7 2007 2019
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.020 1.000 2 2013 2015
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2015 2017
dbSNP: rs747797219
rs747797219
CHEK2
2 22 28689135 missense variant C/A;G snv 4.3E-06 0.020 1.000 2 2006 2007
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.020 1.000 2 2015 2018
dbSNP: rs1057519911
rs1057519911
MAPK1
10 0.776 0.160 22 21772875 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs11089328
rs11089328
DGCR8
2 22 20092080 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1135840
rs1135840
CYP2D6 ; NDUFA6-DT
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13058338
rs13058338
RAC2
4 1.000 0.040 22 37236730 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2015 2015