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: rs2017122
rs2017122
2 0.925 0.040 11 118444134 intron variant C/T snv 4.0E-02 0.700 1.000 1 2016 2016