NRL, neural retina leucine zipper, 4901

N. diseases: 61; N. variants: 18
Disease: RETINITIS PIGMENTOSA 27 ×
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: rs104894459
rs104894459 		0.882 0.080 14 24082701 missense variant A/T snv
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 8 1999 2012
dbSNP: rs397514516
rs397514516 		0.882 0.080 14 24082562 missense variant A/G snv 4.0E-06
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 8 1999 2012
dbSNP: rs757038765
rs757038765 		0.925 0.080 14 24082484 missense variant C/T snv 4.0E-06
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 8 1999 2012
dbSNP: rs104894463
rs104894463 		0.925 0.080 14 24081471 missense variant A/G snv
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2004 2007
dbSNP: rs1173385399
rs1173385399 		1.000 0.080 14 24081442 missense variant G/T snv
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs149921817
rs149921817 		1.000 0.080 14 24082622 missense variant G/A snv 1.2E-04 1.2E-04
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1566560531
rs1566560531 		1.000 0.080 14 24082510 stop gained G/C snv
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1566561006
rs1566561006 		1.000 0.080 14 24082745 frameshift variant G/-;GG delins
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs199691910
rs199691910 		0.925 0.080 14 24082650 missense variant G/A snv 9.6E-05 7.0E-05
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs794727281
rs794727281 		0.925 0.080 14 24082698 missense variant G/A snv
CUI: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0