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: rs104894559
rs104894559
CA4
3 0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04 0.710 1.000 3 2004 2005
dbSNP: rs1245199379
rs1245199379
CA4
2 0.925 0.080 17 60150068 missense variant G/A snv 4.5E-06 7.0E-06 0.010 1.000 1 2010 2010