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: rs148910659
rs148910659
3 17 46055293 intron variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs2696579
rs2696579
2 17 46150027 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs7225002
rs7225002
7 0.925 0.080 17 46111701 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019