ACP4, acid phosphatase 4, 93650

N. diseases: 9; N. variants: 8
Disease: Amelogenesis Imperfecta ×
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: rs1085307111
rs1085307111 		0.882 0.080 19 50793784 missense variant C/T snv
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs546603773
rs546603773 		0.882 0.080 19 50791780 missense variant C/A;G;T snv 8.3E-06; 8.3E-06; 5.4E-05
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1270453185
rs1270453185 		1.000 0.080 19 50795064 missense variant C/G snv 4.4E-06
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2019 2019