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: rs4465830
rs4465830
3 20 45956781 intron variant A/G snv 0.13 0.700 1.000 2 2016 2019
dbSNP: rs6130975
rs6130975
2 20 45948343 downstream gene variant G/A;C snv 0.700 1.000 1 2017 2017