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: rs2075252
rs2075252
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.700 1.000 1 2019 2019