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: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 15 2000 2017
dbSNP: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-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 0.820 1.000 11 2000 2014
dbSNP: rs146403122
rs146403122 		0.925 0.160 15 71811966 missense variant G/A snv 4.3E-03 1.8E-03
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 0.720 1.000 10 2000 2019
dbSNP: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-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 9 2000 2013
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: 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: rs752883545
rs752883545 		1.000 0.160 15 71814024 missense variant T/C snv 8.2E-06 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 1.000 8 2000 2013
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: 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: 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: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 2 2009 2019
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: rs113441626
rs113441626 		15 71814833 3 prime UTR variant C/G snv 3.4E-03
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs113441626
rs113441626 		15 71814833 3 prime UTR variant C/G snv 3.4E-03
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
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: rs1223029749
rs1223029749 		0.925 0.080 15 71812102 missense variant C/G snv 6.2E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1223029749
rs1223029749 		0.925 0.080 15 71812102 missense variant C/G snv 6.2E-06 7.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs146403122
rs146403122 		0.925 0.160 15 71811966 missense variant G/A snv 4.3E-03 1.8E-03
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04
CUI: C0339462
Disease: Macular retinoschisis
Macular retinoschisis 		Eye Diseases 0.010 1.000 1 2009 2009