CYGB, cytoglobin, 114757

N. diseases: 88; N. variants: 6
Disease: RETINITIS PIGMENTOSA 36 ×
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: rs121918369
rs121918369 		1.000 0.080 17 76540146 missense variant G/A snv
CUI: C1864621
Disease: RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 2006 2016
dbSNP: rs387907268
rs387907268 		0.925 0.080 17 76540205 stop gained C/G;T snv 4.4E-06; 2.6E-05
CUI: C1864621
Disease: RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs767439982
rs767439982 		1.000 0.080 17 76540518 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C1864621
Disease: RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0