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: rs4785612
rs4785612
1 16 90046699 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9932312
rs9932312
1 16 90049151 upstream gene variant A/G snv 0.63 0.700 1.000 1 2018 2018