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: rs80356710
rs80356710
3 0.925 0.040 20 4699655 stop gained T/G snv 0.010 1.000 1 2019 2019