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: rs307558
rs307558
2 3 12053630 intron variant G/A snv 0.75 0.700 1.000 1 2018 2018
dbSNP: rs795009
rs795009
2 1.000 0.040 3 12167171 intron variant G/T snv 0.72 0.700 1.000 1 2019 2019