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: rs2076530
rs2076530
1 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.900 0.933 1 2005 2019
dbSNP: rs1265757
rs1265757
1 1.000 0.040 6 32334605 intron variant C/T snv 6.4E-02 0.700 1.000 1 2016 2016