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: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2012 2017
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2017 2017