LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
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: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1993 1993
dbSNP: rs121913548
rs121913548 		1.000 0.080 12 69350224 missense variant G/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1993 1993
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs121913549
rs121913549 		0.882 0.200 12 69350194 missense variant T/A snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906535
rs387906535 		0.925 0.080 12 69350170 missense variant G/C snv 7.0E-06
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906536
rs387906536 		0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906536
rs387906536 		0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.030 1.000 3 2014 2019
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2006
dbSNP: rs387906535
rs387906535 		0.925 0.080 12 69350170 missense variant G/C snv 7.0E-06
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2008
dbSNP: rs387906536
rs387906536 		0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2002 2019
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2004 2004
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0031256
Disease: Petechiae
Petechiae 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121913549
rs121913549 		0.882 0.200 12 69350194 missense variant T/A snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121913549
rs121913549 		0.882 0.200 12 69350194 missense variant T/A snv
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1363507110
rs1363507110 		1.000 0.080 12 69350201 missense variant T/C snv 1.2E-05
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1454603223
rs1454603223 		1.000 0.040 12 69353160 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006