CA4, carbonic anhydrase 4, 762

N. diseases: 45; N. variants: 4
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: rs104894559
rs104894559 		0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.820 1.000 5 2005 2010
dbSNP: rs104894559
rs104894559 		0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 3 2004 2005
dbSNP: rs1245199379
rs1245199379 		0.925 0.080 17 60150068 missense variant G/A snv 4.5E-06 7.0E-06
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2005 2010
dbSNP: rs121434551
rs121434551 		1.000 0.080 17 60158357 missense variant C/A;T snv 1.2E-05
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121434552
rs121434552 		1.000 0.080 17 60156653 missense variant G/A snv 4.4E-05; 4.0E-06
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104894559
rs104894559 		0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1245199379
rs1245199379 		0.925 0.080 17 60150068 missense variant G/A snv 4.5E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010