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: rs80358785
rs80358785
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 13 2002 2017