HYAL1, hyaluronidase 1, 3373

N. diseases: 58; N. variants: 5
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: rs11130248
rs11130248 		1.000 0.080 3 50314769 upstream gene variant A/G snv 0.10
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.800 1.000 1 2010 2010
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: rs34136796
rs34136796 		3 50299601 upstream gene variant C/A snv 0.26
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
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
dbSNP: rs1377666593
rs1377666593 		1.000 0.040 3 50301013 missense variant A/G snv 1.6E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010