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: 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: 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: 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: 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: rs372460062
rs372460062 		15 71812696 intron variant G/A snv 3.9E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: rs1567160967
rs1567160967 		1.000 0.080 15 71814051 frameshift variant TGCAG/- del
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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: rs574936510
rs574936510 		1.000 0.040 15 71817619 frameshift variant TTT/-;T;TT delins 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs766769900
rs766769900 		1.000 0.160 15 71817605 missense variant G/A;C snv 4.0E-06; 4.0E-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: rs749050219
rs749050219 		1.000 0.080 15 71812405 missense variant C/A;G;T snv 8.0E-06; 4.0E-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 2015 2015
dbSNP: rs1303613101
rs1303613101 		1.000 0.160 15 71817671 missense variant T/A;C snv 8.1E-06; 4.0E-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: rs774102273
rs774102273 		1.000 0.160 15 71813566 missense variant C/G;T snv 4.1E-06; 8.2E-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: 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: 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: rs756678889
rs756678889 		1.000 0.160 15 71814066 missense variant A/G snv 8.1E-06 7.0E-06
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 0.010 1.000 1 2009 2009
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