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: rs8192506
rs8192506
DBI
2 1.000 0.040 2 119372265 missense variant A/C;G snv 4.0E-06; 2.5E-02 0.010 1.000 1 2007 2007