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: rs133885
rs133885
1 1.000 0.120 22 25763322 missense variant G/A;C snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs6004882
rs6004882
1 22 25993989 intron variant C/G;T snv 0.700 1.000 1 2018 2018