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: rs10993994
rs10993994
10 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs34997829
rs34997829
2 1.000 0.080 10 124546821 intron variant G/C snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs71647808
rs71647808
2 0.925 0.120 15 89776664 stop gained G/A;C;T snv 1.0E-04; 2.7E-05; 4.1E-05 0.010 1.000 1 2008 2008