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: rs112844193
rs112844193
2 0.925 0.160 1 245175674 intron variant C/T snv 6.6E-02 0.700 1.000 1 2019 2019