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: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.040 1.000 4 2015 2019
dbSNP: rs391745
rs391745 		3 0.925 0.080 X 97839482 intergenic variant C/G;T snv 0.020 0.500 2 2011 2019
dbSNP: rs1044165
rs1044165
VSIG4
1 1.000 0.080 X 66021884 3 prime UTR variant G/A snv 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs132630295
rs132630295
PLP1 ; RAB9B
1 1.000 0.080 X 103786682 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs3761547
rs3761547
FOXP3
3 0.882 0.200 X 49262004 intron variant T/C snv 9.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs4271113
rs4271113 		1 1.000 0.080 X 34874386 regulatory region variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs5945430
rs5945430
PLXNA3
1 1.000 0.080 X 154465991 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs6622139
rs6622139 		1 1.000 0.080 X 107053120 intergenic variant T/C snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs72619425
rs72619425 		1 1.000 0.080 X 37753178 intron variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.800 1.000 2 2011 2019
dbSNP: rs2283792
rs2283792
MAPK1
1 1.000 0.080 22 21776836 intron variant T/G snv 0.54 0.800 1.000 2 2011 2013
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 2018 2018
dbSNP: rs121908345
rs121908345
MLC1
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
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: rs133945
rs133945
SYN3
1 1.000 0.080 22 33006858 intron variant C/T snv 0.45 0.010 1.000 1 2006 2006
dbSNP: rs133946
rs133946
SYN3
1 1.000 0.080 22 33007293 intron variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs2073167
rs2073167
TEF
1 1.000 0.080 22 41395532 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs229541
rs229541
C1QTNF6
8 0.807 0.200 22 37195278 intron variant G/A snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs2412973
rs2412973
HORMAD2
2 1.000 0.080 22 30133642 intron variant C/A snv 0.54 0.700 1.000 1 2011 2011