NRL, neural retina leucine zipper, 4901

N. diseases: 61; N. variants: 18
Disease: Retinitis Pigmentosa ×
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: rs527236087
rs527236087 		1.000 0.080 14 24082826 frameshift variant A/- del 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104894459
rs104894459 		0.882 0.080 14 24082701 missense variant A/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2003 2003
dbSNP: rs199691910
rs199691910 		0.925 0.080 14 24082650 missense variant G/A snv 9.6E-05 7.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs201358563
rs201358563 		1.000 0.080 14 24081247 missense variant G/A snv 2.8E-04 2.4E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs397514516
rs397514516 		0.882 0.080 14 24082562 missense variant A/G snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs757038765
rs757038765 		0.925 0.080 14 24082484 missense variant C/T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs794727281
rs794727281 		0.925 0.080 14 24082698 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2002 2002