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: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 6 2000 2014
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2004 2008
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		0.700 0
dbSNP: rs2723341
rs2723341 		0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882149
rs730882149 		1.000 0.080 15 71811507 frameshift variant GC/AGTGTGCCTCCAGTGCCTCGCTCCA delins
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121912631
rs121912631 		0.851 0.080 15 71811530 missense variant G/A;T snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.050 1.000 5 2007 2019
dbSNP: rs121912631
rs121912631 		0.851 0.080 15 71811530 missense variant G/A;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 3 2009 2019
dbSNP: rs121912631
rs121912631 		0.851 0.080 15 71811530 missense variant G/A;T snv
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2007 2009
dbSNP: rs121912631
rs121912631 		0.851 0.080 15 71811530 missense variant G/A;T snv
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1555454566
rs1555454566 		0.882 0.160 15 71811553 inframe deletion ACGGCTGCA/- delins
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 2000 2016
dbSNP: rs1555454566
rs1555454566 		0.882 0.160 15 71811553 inframe deletion ACGGCTGCA/- delins
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 7 2000 2016
dbSNP: rs1555454566
rs1555454566 		0.882 0.160 15 71811553 inframe deletion ACGGCTGCA/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1567159701
rs1567159701 		1.000 0.160 15 71811559 inframe deletion GCAGCGGCT/- delins
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894492
rs104894492 		1.000 0.160 15 71811590 missense variant C/A;T snv 1.3E-05; 3.0E-05; 4.4E-06 2.8E-05
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 8 2000 2013
dbSNP: rs104894493
rs104894493 		1.000 0.160 15 71811591 missense variant G/A snv 2.0E-04 3.1E-04
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2000 2013
dbSNP: rs1012493577
rs1012493577 		1.000 0.160 15 71811768 missense variant G/A snv 1.3E-05 2.8E-05
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1278137915
rs1278137915 		1.000 0.160 15 71811783 missense variant G/A;T snv
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2000 2013
dbSNP: rs1489149705
rs1489149705 		1.000 0.160 15 71811810 missense variant G/A snv 2.1E-05
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2000 2013
dbSNP: rs772881093
rs772881093 		15 71811825 missense variant C/A snv 3.9E-05 2.8E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 0
dbSNP: rs990307718
rs990307718 		1.000 0.160 15 71811830 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs766096417
rs766096417 		0.925 0.160 15 71811831 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005