rs1013801316
|
1.000 |
0.160 |
11 |
89191418 |
stop gained |
G/A;T
|
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 |
|
0 |
|
|
rs1031268531
|
1.000 |
0.160 |
11 |
89191362 |
missense variant |
A/G
|
snv
|
|
4.2E-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 |
|
0 |
|
|
rs1050708792
|
1.000 |
0.160 |
11 |
89295245 |
missense variant |
C/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 |
|
0 |
|
|
rs1207709557
|
0.925 |
0.160 |
11 |
89227896 |
missense variant |
G/A
|
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 |
|
0 |
|
|
rs1338186937
|
1.000 |
0.160 |
11 |
89178548 |
missense variant |
G/A
|
snv
|
|
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 |
|
0 |
|
|
rs138487695
|
1.000 |
0.160 |
11 |
89178482 |
missense variant |
G/A;T
|
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 |
|
|
rs142170797
|
1.000 |
0.160 |
11 |
89191297 |
missense variant |
C/A
|
snv
|
3.0E-04
|
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
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
rs1565423674
|
1.000 |
0.160 |
11 |
89284853 |
frameshift variant |
G/-
|
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 |
|
|
rs281865328
|
1.000 |
0.160 |
11 |
89295276 |
frameshift variant |
-/C
|
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 |
|
|
rs281865522
|
1.000 |
0.160 |
11 |
89227949 |
frameshift variant |
T/-
|
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 |
|
|
rs281865527
|
1.000 |
0.160 |
11 |
89191307 |
frameshift variant |
-/C
|
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 |
|
|
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 |
|
|
rs367543066
|
0.925 |
0.160 |
11 |
89178504 |
stop gained |
C/G;T
|
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 |
|
0 |
|
|
rs367543068
|
1.000 |
0.160 |
11 |
89178692 |
missense variant |
T/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 |
|
|
rs377209424
|
1.000 |
0.160 |
11 |
89178588 |
missense variant |
G/A
|
snv
|
1.6E-05
|
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 |
|
0 |
|
|
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 |
|
|
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 |
|
|
rs61754360
|
1.000 |
0.160 |
11 |
89178486 |
stop gained |
G/A
|
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 |
|
0 |
|
|
rs61754361
|
1.000 |
0.160 |
11 |
89178521 |
frameshift variant |
G/-
|
delins
|
2.8E-05
|
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
|
0.700 |
|
0 |
|
|
rs61754362
|
1.000 |
0.160 |
11 |
89178566 |
missense variant |
C/A
|
snv
|
2.0E-05
|
7.7E-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 |
|
|
rs61754365
|
0.925 |
0.160 |
11 |
89178603 |
missense variant |
G/A;C;T
|
snv
|
2.6E-04;
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
|
0.800 |
|
0 |
|
|
rs61754367
|
1.000 |
0.160 |
11 |
89178660 |
stop gained |
G/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
|
0.800 |
|
0 |
|
|
rs61754368
|
1.000 |
0.160 |
11 |
89178682 |
stop gained |
TG/-
|
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 |
|
|