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: rs10854554
rs10854554
2 0.925 0.080 22 19623159 regulatory region variant A/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs62341639
rs62341639
2 0.925 0.080 4 184238281 intergenic variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs138924661
rs138924661
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0