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: rs4742170
rs4742170
3 0.925 0.080 9 6242950 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018