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: rs371308207
rs371308207
C1D
4 0.882 0.080 2 68047303 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2012 2012