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: rs121917757
rs121917757
4 0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05 0.820 1.000 2 2007 2015