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: rs115421711
rs115421711
1 5 52787392 intron variant A/G snv 2.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs1499280
rs1499280
1 5 52801055 missense variant C/A snv 0.91 0.91 0.700 1.000 1 2016 2016