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: rs1348800465
rs1348800465
1 1.000 0.080 17 45991491 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016