rs1362285246
|
1.000 |
0.160 |
11 |
89284865 |
missense variant |
T/A;C
|
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 |
rs1463109821
|
1.000 |
0.160 |
11 |
89191245 |
missense variant |
T/C
|
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 |
1.000 |
20 |
1990 |
2014 |
rs1468041471
|
1.000 |
0.160 |
11 |
89191247 |
missense variant |
T/C
|
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 |
1.000 |
20 |
1990 |
2014 |
rs200854796
|
1.000 |
0.160 |
11 |
89191274 |
missense variant |
C/T
|
snv
|
3.6E-05
|
7.0E-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 |
1.000 |
20 |
1990 |
2014 |
rs281865327
|
1.000 |
0.160 |
11 |
89284903 |
missense variant |
T/G
|
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 |
1.000 |
20 |
1990 |
2014 |
rs372534292
|
1.000 |
0.160 |
11 |
89191377 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs61754393
|
0.882 |
0.160 |
11 |
89284853 |
missense variant |
G/A;T
|
snv
|
6.0E-05;
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 |
rs750553908
|
0.925 |
0.160 |
11 |
89178546 |
missense variant |
T/C
|
snv
|
4.0E-06
|
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
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs752344007
|
1.000 |
0.160 |
11 |
89227970 |
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 |
rs774670098
|
1.000 |
0.160 |
11 |
89178668 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
2.8E-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 |
rs776054795
|
1.000 |
0.160 |
11 |
89227885 |
missense variant |
C/T
|
snv
|
8.0E-06
|
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
|
0.700 |
1.000 |
20 |
1990 |
2014 |
rs61754374
|
1.000 |
0.160 |
11 |
89191277 |
missense variant |
C/A;T
|
snv
|
2.8E-05;
1.6E-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 |
1.000 |
3 |
2003 |
2008 |
rs1565386964
|
1.000 |
0.160 |
11 |
89178667 |
stop gained |
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 |
1 |
2011 |
2011 |
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 |
|
|