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: rs121918654
rs121918654
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018