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: rs1260326
rs1260326
21 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.820 0.750 2 2010 2016
dbSNP: rs780094
rs780094
27 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.730 1.000 3 2010 2017