CA2, carbonic anhydrase 2, 760

N. diseases: 210; N. variants: 12
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 ×
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: 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: 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