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: rs199472823
rs199472823
5 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs28933408
rs28933408
3 0.882 0.160 3 24122913 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs557874766
rs557874766
2 0.925 0.160 5 80654926 missense variant C/G;T snv 8.5E-06; 6.8E-05; 8.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs758677446
rs758677446
2 0.925 0.160 3 24190250 missense variant C/T snv 6.4E-05 7.0E-06 0.010 1.000 1 2019 2019