rs28940881
|
0.776 |
0.200 |
11 |
89177954 |
start lost |
A/G
|
snv
|
6.4E-05
|
5.6E-05
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61753177
|
1.000 |
0.160 |
11 |
89178010 |
missense variant |
T/A;C
|
snv
|
1.2E-05
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs61753178
|
1.000 |
0.160 |
11 |
89178014 |
missense variant |
C/T
|
snv
|
3.6E-05
|
1.4E-05
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1990 |
2014 |
rs1555083355
|
1.000 |
0.160 |
11 |
89178054 |
missense variant |
A/C
|
snv
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61753179
|
1.000 |
0.160 |
11 |
89178060 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs28940878
|
1.000 |
0.160 |
11 |
89178078 |
missense variant |
A/G
|
snv
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1990 |
2014 |
rs755700581
|
1.000 |
0.160 |
11 |
89178085 |
missense variant |
T/A
|
snv
|
2.0E-05
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61753180
|
0.882 |
0.160 |
11 |
89178093 |
missense variant |
G/A
|
snv
|
1.6E-04
|
2.8E-04
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
21 |
1990 |
2014 |
rs61753181
|
1.000 |
0.160 |
11 |
89178102 |
stop gained |
C/G;T
|
snv
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs28940879
|
0.851 |
0.160 |
11 |
89178117 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1990 |
2014 |
rs61753184
|
1.000 |
0.160 |
11 |
89178182 |
missense variant |
C/T
|
snv
|
2.4E-05;
3.2E-05
|
6.3E-05
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1990 |
2014 |
rs61753185
|
0.882 |
0.160 |
11 |
89178183 |
missense variant |
G/A
|
snv
|
8.4E-05
|
5.6E-05
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
25 |
1990 |
2015 |
rs544053015
|
1.000 |
0.160 |
11 |
89178189 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs61753188
|
1.000 |
0.160 |
11 |
89178191 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs28940876
|
0.827 |
0.160 |
11 |
89178195 |
missense variant |
C/T
|
snv
|
8.4E-05
|
1.7E-04
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
21 |
1990 |
2014 |
rs28940877
|
0.807 |
0.200 |
11 |
89178218 |
missense variant |
T/C
|
snv
|
4.0E-06
|
2.1E-05
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1990 |
2014 |
rs137854890
|
1.000 |
0.160 |
11 |
89178225 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1990 |
2014 |
rs61753190
|
1.000 |
0.160 |
11 |
89178238 |
frameshift variant |
-/A
|
delins
|
4.0E-06
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61753252
|
1.000 |
0.160 |
11 |
89178242 |
missense variant |
G/A
|
snv
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs61753253
|
0.925 |
0.160 |
11 |
89178278 |
missense variant |
G/A
|
snv
|
5.2E-05
|
8.4E-05
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs61753256
|
0.882 |
0.160 |
11 |
89178299 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1565386582
|
1.000 |
0.160 |
11 |
89178340 |
frameshift variant |
AGA/GG
|
delins
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs797046082
|
1.000 |
0.160 |
11 |
89178399 |
missense variant |
A/C;G
|
snv
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs747095957
|
1.000 |
0.160 |
11 |
89178405 |
missense variant |
T/A;C;G
|
snv
|
4.0E-06;
4.0E-06
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61753259
|
1.000 |
0.160 |
11 |
89178479 |
missense variant |
T/A
|
snv
|
|
|
Oculocutaneous albinism type 1A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1990 |
2014 |