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: 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: 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: 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: 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: rs8046011
rs8046011 		3 1.000 0.120 16 11226805 downstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
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