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: rs1057519316
rs1057519316
2 0.925 0.080 19 1496340 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs144942685
rs144942685
2 0.925 0.080 19 1495482 missense variant G/A snv 4.8E-05 8.4E-05 0.010 1.000 1 2017 2017