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: rs146886108
rs146886108
1 1.000 0.080 5 14751196 missense variant C/T snv 3.1E-03 3.3E-03 0.700 1.000 2 2018 2018
dbSNP: rs1061813
rs1061813
1 1.000 0.080 5 14847222 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs6885132
rs6885132
1 1.000 0.080 5 14767983 intron variant C/G;T snv 0.700 1.000 1 2019 2019