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: rs1181742615
rs1181742615
2 0.925 0.080 18 23915298 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs998162536
rs998162536
1 1.000 0.080 18 23928631 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2011 2011