rs2723341
|
0.807 |
0.160 |
15 |
71811481 |
splice acceptor variant |
A/C
|
snv
|
5.3E-04
|
5.1E-04
|
Abnormal color vision
|
|
0.700 |
|
0 |
|
|
rs772881093
|
|
|
15 |
71811825 |
missense variant |
C/A
|
snv
|
3.9E-05
|
2.8E-05
|
Abnormality of the eye
|
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
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 |
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 |
rs372460062
|
|
|
15 |
71812696 |
intron variant |
G/A
|
snv
|
|
3.9E-03
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs146403122
|
0.925 |
0.160 |
15 |
71811966 |
missense variant |
G/A
|
snv
|
4.3E-03
|
1.8E-03
|
Cone monochromatism
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2723341
|
0.807 |
0.160 |
15 |
71811481 |
splice acceptor variant |
A/C
|
snv
|
5.3E-04
|
5.1E-04
|
Cone-Rod Dystrophies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs750740765
|
1.000 |
0.080 |
15 |
71812486 |
frameshift variant |
TC/-
|
delins
|
1.2E-05
|
7.0E-06
|
Cone-Rod Dystrophies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs28937873
|
0.807 |
0.160 |
15 |
71813573 |
missense variant |
G/A
|
snv
|
4.0E-04
|
3.1E-04
|
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 |
rs146403122
|
0.925 |
0.160 |
15 |
71811966 |
missense variant |
G/A
|
snv
|
4.3E-03
|
1.8E-03
|
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 |
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
|
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 |
rs104894493
|
1.000 |
0.160 |
15 |
71811591 |
missense variant |
G/A
|
snv
|
2.0E-04
|
3.1E-04
|
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 |
rs1278137915
|
1.000 |
0.160 |
15 |
71811783 |
missense variant |
G/A;T
|
snv
|
|
|
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 |
rs1489149705
|
1.000 |
0.160 |
15 |
71811810 |
missense variant |
G/A
|
snv
|
|
2.1E-05
|
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 |
rs752883545
|
1.000 |
0.160 |
15 |
71814024 |
missense variant |
T/C
|
snv
|
8.2E-06
|
7.0E-06
|
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 |
rs1555454566
|
0.882 |
0.160 |
15 |
71811553 |
inframe deletion |
ACGGCTGCA/-
|
delins
|
|
|
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 |
rs2723341
|
0.807 |
0.160 |
15 |
71811481 |
splice acceptor variant |
A/C
|
snv
|
5.3E-04
|
5.1E-04
|
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 |
rs1012493577
|
1.000 |
0.160 |
15 |
71811768 |
missense variant |
G/A
|
snv
|
1.3E-05
|
2.8E-05
|
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 |
rs377257254
|
1.000 |
0.160 |
15 |
71813408 |
missense variant |
C/A;T
|
snv
|
3.7E-05;
2.1E-05
|
|
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 |
rs759629930
|
1.000 |
0.160 |
15 |
71814020 |
missense variant |
G/C
|
snv
|
8.2E-06
|
1.4E-05
|
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 |
rs766096417
|
0.925 |
0.160 |
15 |
71811831 |
missense variant |
G/A
|
snv
|
2.0E-05
|
7.0E-06
|
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 |
rs1303613101
|
1.000 |
0.160 |
15 |
71817671 |
missense variant |
T/A;C
|
snv
|
8.1E-06;
4.0E-06
|
|
Enhanced S-Cone Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|