PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
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: rs1568763104
rs1568763104
0.882 0.160 20 9409106 missense variant G/A;T snv
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0