CA4, carbonic anhydrase 4, 762

N. diseases: 45; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894559
rs104894559
0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008