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 0.020 0.500 2 2014 2014
dbSNP: rs52812045
rs52812045
TTTY14
7 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 0.020 0.500 2 2013 2014
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.040 1.000 4 2014 2019
dbSNP: rs1800264
rs1800264
DMD
5 0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03 0.010 1.000 1 2015 2015
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs4824505
rs4824505 		2 0.925 0.080 X 44593652 intergenic variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs5956583
rs5956583
XIAP
2 0.925 0.080 X 123900661 missense variant A/C snv 0.33 0.39 0.010 1.000 1 2011 2011
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.800 30 2000 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.900 0.895 19 2003 2017
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.040 1.000 4 2012 2015
dbSNP: rs531398630
rs531398630
CHEK2
3 0.882 0.160 22 28695858 missense variant G/A snv 4.8E-04 1.1E-04 0.040 1.000 4 2008 2015
dbSNP: rs6001930
rs6001930
MRTFA
2 0.925 0.080 22 40480230 intron variant T/C snv 0.12 0.710 1.000 4 2013 2017
dbSNP: rs132390
rs132390
EMID1 ; LOC105372985
2 0.925 0.080 22 29225488 intron variant C/T snv 0.96 0.700 1.000 3 2013 2017
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.020 1.000 2 2019 2019
dbSNP: rs132793
rs132793 		7 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 0.020 1.000 2 2012 2015
dbSNP: rs17001868
rs17001868
ADSL ; SGSM3 ; LOC107985538
3 0.925 0.080 22 40382227 intron variant A/C snv 0.12 0.020 1.000 2 2015 2017
dbSNP: rs417309
rs417309
DGCR8
4 0.925 0.080 22 20111021 3 prime UTR variant G/A snv 6.1E-02 0.020 1.000 2 2013 2018
dbSNP: rs536907995
rs536907995
CHEK2
5 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.020 1.000 2 2016 2016
dbSNP: rs11548059
rs11548059
MIF ; MIF-AS1
2 0.925 0.080 22 23894794 missense variant C/G;T snv 6.1E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs117078955
rs117078955
ACO2
1 1.000 0.080 22 41501983 intron variant C/T snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs1175088679
rs1175088679
CHEK2
2 0.925 0.080 22 28695764 missense variant G/A snv 0.010 1.000 1 2019 2019
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 2013 2013
dbSNP: rs12483853
rs12483853
TNRC6B
1 1.000 0.080 22 40143521 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs130318
rs130318
PARVB
1 1.000 0.080 22 44080184 intron variant T/A;C snv 0.700 1.000 1 2014 2014