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: rs1553134935
rs1553134935
1 1.000 0.040 1 15445655 frameshift variant CATCG/- delins 0.700 0
dbSNP: rs121909293
rs121909293
5 0.851 0.080 1 15445717 missense variant C/T snv 4.4E-03 3.8E-03 0.020 1.000 2 2010 2017
dbSNP: rs497078
rs497078
2 0.925 0.040 1 15440540 synonymous variant C/A;T snv 3.7E-03; 9.1E-02 0.020 1.000 2 2013 2017