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: rs587777431
rs587777431
1 1.000 0.120 7 128970293 missense variant C/G;T snv 4.1E-05 0.800 1.000 5 2013 2019
dbSNP: rs1563083759
rs1563083759
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs587777430
rs587777430
1 1.000 0.120 7 128957256 frameshift variant T/- del 0.700 0