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 0.010 1.000 1 2009 2009
dbSNP: rs1451659304
rs1451659304
2 1.000 0.040 16 868990 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs754698878
rs754698878
1 16 869919 stop gained G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017