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: 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: rs174535
rs174535
MYRF ; TMEM258
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2019 2019
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: rs3939286
rs3939286 		12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.010 1.000 1 2010 2010
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
dbSNP: rs10905284
rs10905284
GATA3
4 0.882 0.200 10 8073399 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1444782
rs1444782 		5 0.851 0.240 10 9016708 intergenic variant G/A snv 0.35 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: 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