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: 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: 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: rs3939286
rs3939286 		12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.010 1.000 1 2010 2010
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: 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: 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: 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: 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: 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