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: rs121909761
rs121909761
1 1.000 0.080 5 90705508 stop gained C/A snv 0.700 0
dbSNP: rs121909762
rs121909762
4 0.851 0.200 5 90690991 stop gained C/G;T snv 4.0E-06; 4.8E-05 0.700 0
dbSNP: rs373780305
rs373780305
2 0.925 0.200 5 90642886 stop gained C/T snv 3.3E-05 1.4E-05 0.700 0
dbSNP: rs747622607
rs747622607
2 0.925 0.200 5 90848679 stop gained C/T snv 4.9E-06 2.1E-05 0.700 0