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: rs5355
rs5355
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 1.000 2 2012 2018
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2012 2012