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: rs111033260
rs111033260
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.010 1.000 1 2004 2004