CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
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: rs104894672
rs104894672 		0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.820 1.000 6 1997 2019
dbSNP: rs104894671
rs104894671 		0.851 0.080 19 47836381 missense variant A/C snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 5 1997 2000
dbSNP: rs104894673
rs104894673 		0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.800 1.000 5 1998 2011
dbSNP: rs61748459
rs61748459 		0.882 0.080 19 47839791 missense variant G/A snv 1.2E-03 5.1E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 6 1997 2003
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: rs61748436
rs61748436 		0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2000 2000
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: rs10405809
rs10405809 		0.925 0.040 19 47823958 intron variant G/A snv 9.5E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10405809
rs10405809 		0.925 0.040 19 47823958 intron variant G/A snv 9.5E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs17272610
rs17272610 		19 47825482 intron variant A/T snv 0.20
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2011 2011
dbSNP: rs8100396
rs8100396 		19 47826596 intron variant T/C snv 0.24
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2011 2011
dbSNP: rs869312175
rs869312175 		1.000 0.040 19 47839715 frameshift variant C/- del
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1165723137
rs1165723137 		1.000 0.080 19 47839489 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555801963
rs1555801963 		1.000 0.040 19 47839362 stop gained C/T snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
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: rs1568626209
rs1568626209 		1.000 0.080 19 47839569 frameshift variant G/- del
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1568626289
rs1568626289 		1.000 19 47839632 frameshift variant G/- del
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.700 0
dbSNP: rs281865515
rs281865515 		1.000 19 47839586 frameshift variant G/- delins
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.700 0
dbSNP: rs281865516
rs281865516 		1.000 0.080 19 47839678 frameshift variant C/- delins
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		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
dbSNP: rs61748449
rs61748449 		1.000 0.040 19 47839594 frameshift variant G/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs771450991
rs771450991 		19 47836261 missense variant G/A snv 1.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs863224863
rs863224863 		1.000 19 47836266 missense variant G/A snv
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.700 0
dbSNP: rs864309706
rs864309706 		19 47839516 stop gained C/G snv
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		Eye Diseases 0.700 0