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: rs78746179
rs78746179
2 17 46127240 intron variant C/T snv 5.0E-02 0.700 1.000 1 2019 2019