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: rs1060501256
rs1060501256
1 1.000 11 32434813 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs28931589
rs28931589
17 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015