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: rs1024323
rs1024323
4 0.882 0.160 4 3004316 missense variant C/A;G;T snv 0.36 0.030 1.000 3 2006 2016
dbSNP: rs1801058
rs1801058
4 0.882 0.120 4 3037423 missense variant T/C;G snv 0.62 0.030 1.000 3 2006 2016
dbSNP: rs2960306
rs2960306
1 1.000 0.040 4 2988772 missense variant G/A;T snv 4.8E-05; 0.32 0.020 1.000 2 2006 2016