CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
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: rs61748436
rs61748436 		0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 4 1997 2001
dbSNP: rs750727986
rs750727986 		1.000 0.080 19 47839411 missense variant G/A;C snv 4.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 1997 2001
dbSNP: rs1555801989
rs1555801989 		1.000 0.080 19 47839514 frameshift variant TC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236062
rs527236062 		1.000 0.080 19 47836335 missense variant G/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236063
rs527236063 		1.000 0.080 19 47839964 missense variant G/A;C snv 1.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0