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: rs12736689
rs12736689
1 1 182580594 intron variant T/C snv 4.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs516134
rs516134
1 1 182584558 intron variant C/T snv 0.93 0.700 1.000 1 2016 2016