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: rs138085133
rs138085133
3 0.882 0.080 1 26022729 missense variant C/G;T snv 8.4E-04; 4.0E-06 0.010 < 0.001 1 2004 2004