CPB2, carboxypeptidase B2, 1361

N. diseases: 148; N. variants: 11
Disease: Vertical Talus ×
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: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2014 2018
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2014 2018
dbSNP: rs2146881
rs2146881 		1.000 0.080 13 46105463 non coding transcript exon variant T/A;C snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018