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: rs1310063298
rs1310063298
2 1.000 0.080 8 26864701 missense variant C/A snv 4.0E-06 0.030 1.000 3 2013 2017
dbSNP: rs1393259836
rs1393259836
2 0.925 0.080 8 26748670 frameshift variant TT/- del 0.010 1.000 1 2006 2006