rs121912550
|
0.827 |
0.120 |
7 |
128398557 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Retinitis Pigmentosa 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.710 |
1.000 |
1 |
2006 |
2006 |
rs1057518949
|
1.000 |
0.080 |
7 |
128398560 |
missense variant |
T/G
|
snv
|
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs121912551
|
1.000 |
0.080 |
7 |
128398431 |
missense variant |
C/T
|
snv
|
4.8E-05
|
6.3E-05
|
Retinitis Pigmentosa 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs121912552
|
0.882 |
0.080 |
7 |
128398562 |
missense variant |
C/G
|
snv
|
|
|
Retinitis Pigmentosa 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs121912554
|
0.925 |
0.040 |
7 |
128400120 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
LEBER CONGENITAL AMAUROSIS 11
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs886037911
|
1.000 |
0.080 |
7 |
128398504 |
missense variant |
C/G
|
snv
|
|
|
Retinitis Pigmentosa 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs121912550
|
0.827 |
0.120 |
7 |
128398557 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.040 |
1.000 |
4 |
2005 |
2006 |
rs1042253
|
0.851 |
0.120 |
7 |
128398543 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1042253
|
0.851 |
0.120 |
7 |
128398543 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
|
Retinitis Pigmentosa 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1042253
|
0.851 |
0.120 |
7 |
128398543 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
|
Deficiency of phosphoglycerate kinase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1042253
|
0.851 |
0.120 |
7 |
128398543 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
|
Phosphoglycerate Kinase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1051367143
|
1.000 |
0.040 |
7 |
128400124 |
missense variant |
G/C
|
snv
|
|
7.0E-06
|
Leber Congenital Amaurosis
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1186710140
|
1.000 |
0.080 |
7 |
128398499 |
missense variant |
A/G
|
snv
|
|
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs121912550
|
0.827 |
0.120 |
7 |
128398557 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Deficiency of phosphoglycerate kinase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs121912550
|
0.827 |
0.120 |
7 |
128398557 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Phosphoglycerate Kinase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs121912550
|
0.827 |
0.120 |
7 |
128398557 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs121912552
|
0.882 |
0.080 |
7 |
128398562 |
missense variant |
C/G
|
snv
|
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs121912552
|
0.882 |
0.080 |
7 |
128398562 |
missense variant |
C/G
|
snv
|
|
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs121912554
|
0.925 |
0.040 |
7 |
128400120 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Amaurosis congenita of Leber, type 1
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1287231851
|
1.000 |
0.080 |
7 |
128400887 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1486286708
|
1.000 |
0.080 |
7 |
128398508 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs200729507
|
0.851 |
0.120 |
7 |
128396990 |
missense variant |
G/A;C;T
|
snv
|
7.6E-05;
4.0E-06
|
|
Retinitis Pigmentosa 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs200729507
|
0.851 |
0.120 |
7 |
128396990 |
missense variant |
G/A;C;T
|
snv
|
7.6E-05;
4.0E-06
|
|
Deficiency of phosphoglycerate kinase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs200729507
|
0.851 |
0.120 |
7 |
128396990 |
missense variant |
G/A;C;T
|
snv
|
7.6E-05;
4.0E-06
|
|
Autosomal dominant retinitis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs200729507
|
0.851 |
0.120 |
7 |
128396990 |
missense variant |
G/A;C;T
|
snv
|
7.6E-05;
4.0E-06
|
|
Phosphoglycerate Kinase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |