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: rs139974673
rs139974673
2 15 43735687 intron variant T/C snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs147233090
rs147233090
6 0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 0.700 1.000 1 2019 2019