CA2, carbonic anhydrase 2, 760

N. diseases: 210; N. variants: 12
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: rs118203933
rs118203933 		0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.810 1.000 1 1993 1993
dbSNP: rs10504813
rs10504813 		8 85479352 intron variant C/T snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs573750741
rs573750741 		1.000 0.240 8 85465470 splice donor variant G/A snv 4.0E-06
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 1992 1992
dbSNP: rs779869368
rs779869368 		1.000 0.240 8 85480685 frameshift variant A/- delins 4.0E-06 1.1E-04
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 1994 1994
dbSNP: rs118203931
rs118203931 		8 85465289 missense variant A/C;G snv 4.6E-04; 4.0E-06
CUI: C4017251
Disease: CARBONIC ANHYDRASE II VARIANT
CARBONIC ANHYDRASE II VARIANT 		0.700 0
dbSNP: rs118203932
rs118203932 		8 85480713 missense variant C/A;G snv 8.0E-06
CUI: C4017251
Disease: CARBONIC ANHYDRASE II VARIANT
CARBONIC ANHYDRASE II VARIANT 		0.700 0
dbSNP: rs118203934
rs118203934 		1.000 0.240 8 85465357 stop gained T/G snv
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1304160279
rs1304160279 		1.000 0.240 8 85473735 missense variant A/C snv
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554709677
rs1554709677 		1.000 0.240 8 85464102 stop gained C/A snv
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201928238
rs201928238 		0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2004 2009
dbSNP: rs118203933
rs118203933 		0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 1992 1992
dbSNP: rs118203933
rs118203933 		0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C1446648
Disease: Non-specific brain syndrome
Non-specific brain syndrome 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs118203933
rs118203933 		0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 1992 1992
dbSNP: rs118203933
rs118203933 		0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs118203933
rs118203933 		0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs201928238
rs201928238 		0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.010 1.000 1 1998 1998
dbSNP: rs201928238
rs201928238 		0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201928238
rs201928238 		0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs765669662
rs765669662 		0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs765669662
rs765669662 		0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs886063150
rs886063150 		0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs886063150
rs886063150 		0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs886063150
rs886063150 		0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998