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: rs12460243
rs12460243
5 0.925 19 8066356 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs17160151
rs17160151
5 1.000 19 8085509 missense variant C/T snv 1.8E-02 7.3E-02 0.700 1.000 1 2019 2019