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: rs121909397
rs121909397
3 0.925 0.080 16 869982 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.700 0
dbSNP: rs587777626
rs587777626
1 1.000 0.080 16 869908 stop gained C/T snv 4.1E-06 1.4E-05 0.700 0