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: rs104895461
rs104895461
4 0.882 0.120 16 50710912 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs104895477
rs104895477
3 0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05 0.010 1.000 1 2009 2009