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: rs3768844
rs3768844
1 2 143039125 intron variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs3816193
rs3816193
1 2 143042338 3 prime UTR variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs78201785
rs78201785
1 2 142917663 intron variant A/C snv 5.8E-02 0.700 1.000 1 2019 2019