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: rs16947122
rs16947122
2 0.925 0.200 12 116928726 intron variant C/T snv 7.3E-02 0.700 1.000 1 2019 2019