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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs538399
rs538399
3 0.925 0.120 17 40454413 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs884000
rs884000
2 0.925 0.120 2 205815673 regulatory region variant C/A snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs9461799
rs9461799
6 0.807 0.360 6 32721752 downstream gene variant T/C snv 0.37 0.010 1.000 1 2017 2017