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: rs9268644
rs9268644
HLA-DRA
5 0.827 0.360 6 32440267 intron variant A/C snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs828618
rs828618
DCBLD2
2 0.925 0.160 3 98822789 intron variant G/A snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs8046011
rs8046011 		3 1.000 0.120 16 11226805 downstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7817
rs7817
IFRD1
2 0.925 0.200 7 112475603 3 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs74767530
rs74767530
CFTR
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 1993 1993
dbSNP: rs7302200
rs7302200 		6 0.851 0.200 12 56055651 regulatory region variant G/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs6543124
rs6543124
IL18R1
1 1.000 0.120 2 102370999 intron variant T/A snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs62408225
rs62408225
BACH2
2 1.000 0.120 6 90246690 intron variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs4807542
rs4807542
GPX4
3 1.000 0.120 19 1104079 synonymous variant G/A;C snv 0.22; 1.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs4150407
rs4150407
ERCC3
3 1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs3939286
rs3939286 		12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3807213
rs3807213
IFRD1
3 0.882 0.200 7 112465699 intron variant G/T snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs34210653
rs34210653
ALOX15
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.710 1.000 1 2019 2019
dbSNP: rs338598
rs338598
CYP2S1
1 1.000 0.120 19 41195623 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3129878
rs3129878
HLA-DRA
6 0.807 0.360 6 32440958 intron variant A/C snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs28383314
rs28383314 		5 0.925 0.160 6 32619436 regulatory region variant T/C snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017
dbSNP: rs2428494
rs2428494
HLA-B
5 0.827 0.160 6 31354420 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2427827
rs2427827
FCER1A
2 1.000 0.120 1 159302021 intron variant T/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2280540
rs2280540
BET1L ; SCGB1C1
1 1.000 0.120 11 192997 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1888909
rs1888909 		4 0.882 0.200 9 6197392 downstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1837253
rs1837253 		10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 2018
dbSNP: rs17718444
rs17718444
FOXP1
1 1.000 0.120 3 71450250 intron variant C/T snv 0.27 0.700 1.000 1 2019 2019