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: C0234629
Disease: Abnormal color vision
Abnormal color vision
0.700 0
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: rs121912631
rs121912631
0.851 0.080 15 71811530 missense variant G/A;T snv
Autosomal dominant retinitis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.050 1.000 5 2007 2019
dbSNP: rs1223029749
rs1223029749
0.925 0.080 15 71812102 missense variant C/G snv 6.2E-06 7.0E-06
Autosomal dominant retinitis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs749050219
rs749050219
1.000 0.080 15 71812405 missense variant C/A;G;T snv 8.0E-06; 4.0E-06
Autosomal dominant retinitis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121912631
rs121912631
0.851 0.080 15 71811530 missense variant G/A;T snv
Autosomal recessive retinitis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776270511
rs776270511
1.000 0.080 15 71811957 missense variant G/A;C snv 1.3E-05; 2.0E-05
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: 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs750740765
rs750740765
1.000 0.080 15 71812486 frameshift variant TC/- delins 1.2E-05 7.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: 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: 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: 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: 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: rs377257254
rs377257254
1.000 0.160 15 71813408 missense variant C/A;T snv 3.7E-05; 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 0.710 1.000 1 2007 2007
dbSNP: rs759629930
rs759629930
1.000 0.160 15 71814020 missense variant G/C snv 8.2E-06 1.4E-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 2005 2005
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
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