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: rs17030
rs17030
C3
2 0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs344555
rs344555
C3
2 0.925 0.040 19 6679349 intron variant T/C snv 0.80 0.010 1.000 1 2014 2014