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: rs112790992
rs112790992
1 14 105291880 intron variant A/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2816648
rs2816648
1 14 105241952 5 prime UTR variant C/T snv 0.23 0.700 1.000 1 2018 2018