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: rs111900181
rs111900181
1 1 54383167 intron variant A/G snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs80020578
rs80020578
1 1 54383154 intron variant G/A snv 9.0E-02 0.700 1.000 1 2019 2019