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: rs2287926
rs2287926
1 5 83519589 missense variant G/A snv 0.15 0.17 0.700 1.000 1 2017 2017
dbSNP: rs34580448
rs34580448
1 5 83515065 intron variant T/C snv 2.8E-02 0.700 1.000 1 2019 2019