HYAL1, hyaluronidase 1, 3373

N. diseases: 58; N. variants: 5
Disease: Hyaluronidase Deficiency ×
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: rs104893743
rs104893743 		1.000 0.120 3 50302155 missense variant C/T snv 7.6E-05 7.0E-06
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1553713075
rs1553713075 		1.000 0.120 3 50302170 splice acceptor variant GCACATACATCTGTGACTTCCCTGTGCCCTCCAGCAC/CGGGCCACACGGAA delins
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0