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: rs60131261
rs60131261
HLA-A
1 1.000 0.040 6 29969559 downstream gene variant TTTA/- delins 0.26 0.700 1.000 1 2016 2016
dbSNP: rs199559999
rs199559999
STAT4
1 1.000 0.040 2 191090480 intron variant TAC/- del 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs11966619
rs11966619
LOC105375012
1 1.000 0.040 6 30461256 intergenic variant T/G snv 0.17 0.700 1.000 1 2010 2010
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: rs17008723
rs17008723
FOXP1
2 0.925 0.040 3 71523984 intron variant T/G snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs6902119
rs6902119
FGFR1OP
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.700 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: rs148136154
rs148136154 		1 1.000 0.040 3 119564621 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs16843742
rs16843742
PTPRC
1 1.000 0.040 1 198703170 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs706779
rs706779
IL2RA
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.810 1.000 5 2010 2016
dbSNP: rs11021232
rs11021232 		1 1.000 0.040 11 95587644 intron variant T/C snv 0.14 0.800 1.000 2 2012 2016
dbSNP: rs1135216
rs1135216
PSMB9 ; TAP1
6 0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18 0.020 0.500 2 2014 2017
dbSNP: rs10200159
rs10200159
PPP4R3B ; LOC107985885
1 1.000 0.040 2 55617974 non coding transcript exon variant T/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs10250629
rs10250629
SPATA48
1 1.000 0.040 7 50151757 intron variant T/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10986311
rs10986311
NEK6
1 1.000 0.040 9 124309214 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs11964542
rs11964542
TRIM31 ; TRIM31-AS1
1 1.000 0.040 6 30103983 non coding transcript exon variant T/C snv 7.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1264350
rs1264350
LINC00243
2 0.925 0.160 6 30828768 intron variant T/C snv 9.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs16147
rs16147
NPY ; LOC107986777
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
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: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs2236313
rs2236313
RNASET2
1 1.000 0.040 6 166946901 intron variant T/C snv 0.53 0.50 0.800 1.000 1 2010 2010