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: rs1131532
rs1131532
1 1.000 0.080 3 172506513 missense variant A/C;G;T snv 2.1E-05; 0.65 0.010 1.000 1 2010 2010