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: rs397518447
rs397518447
2 0.925 0.040 16 9829585 missense variant G/T snv 0.010 1.000 1 2019 2019