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: rs755373114
rs755373114
3 0.925 0.080 4 113341742 missense variant A/C snv 7.2E-05 0.010 1.000 1 2018 2018