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: rs181807530
rs181807530
1 17 4871519 intron variant C/G snv 4.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs186183604
rs186183604
1 11 67361262 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs190121281
rs190121281
1 19 19141970 upstream gene variant G/A snv 3.5E-03 0.700 1.000 1 2016 2016