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: rs150115958
rs150115958
3 0.882 0.160 11 67457677 stop gained C/A;T snv 5.2E-05 0.700 1.000 1 2019 2019