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: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2013 2013
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: rs5952553
rs5952553 		1 1.000 0.040 X 49628118 downstream gene variant C/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs73456411
rs73456411
IL1RAPL1
1 1.000 0.040 X 29719287 intron variant G/T snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs229527
rs229527
C1QTNF6
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.800 1.000 4 2010 2016
dbSNP: rs2096525
rs2096525
MIF ; MIF-AS1
6 0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20 0.010 1.000 1 2013 2013
dbSNP: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs4822024
rs4822024 		1 1.000 0.040 22 41361643 downstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
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 2014 2014
dbSNP: rs9611565
rs9611565
TEF
1 1.000 0.040 22 41371482 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 2 2010 2012
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2020 2020
dbSNP: rs12482904
rs12482904
UBASH3A
1 1.000 0.040 21 42431719 intron variant T/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs2257167
rs2257167
IFNAR1
7 0.807 0.200 21 33343393 missense variant G/C snv 0.18 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2839511
rs2839511
UBASH3A
1 1.000 0.040 21 42428412 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs158676
rs158676
CDK5RAP1
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs291700
rs291700
CDK5RAP1
3 0.925 0.040 20 33394043 synonymous variant T/C snv 0.64 0.62 0.010 1.000 1 2013 2013
dbSNP: rs6012953
rs6012953 		1 1.000 0.040 20 50506506 upstream gene variant A/G snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs2304206
rs2304206
IRF3 ; BCL2L12
2 0.925 0.080 19 49665614 5 prime UTR variant G/A snv 0.37 0.700 1.000 1 2016 2016