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: rs79105258
rs79105258
24 12 111280427 intron variant C/A;T snv 0.700 1.000 3 2018 2019
dbSNP: rs4766566
rs4766566
6 0.851 0.200 12 111269073 intron variant C/T snv 0.42 0.700 1.000 1 2019 2019