rs104894313
|
0.807 |
0.160 |
11 |
89284805 |
missense variant |
C/T
|
snv
|
3.8E-03;
4.0E-06
|
3.7E-03
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
4 |
1991 |
1999 |
rs104894314
|
0.790 |
0.160 |
11 |
89191205 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
9.2E-05
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
4 |
1991 |
1999 |
rs104894316
|
0.925 |
0.160 |
11 |
89284797 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
3.6E-05
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1991 |
1999 |
rs145513733
|
1.000 |
0.160 |
11 |
89178407 |
missense variant |
C/T
|
snv
|
3.5E-04
|
2.3E-04
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1991 |
1999 |
rs61754391
|
1.000 |
0.160 |
11 |
89227924 |
missense variant |
T/C
|
snv
|
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1991 |
1999 |
rs61754393
|
0.882 |
0.160 |
11 |
89284853 |
missense variant |
G/A;T
|
snv
|
6.0E-05;
4.0E-06
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1991 |
1999 |
rs121908011
|
0.827 |
0.160 |
11 |
89227933 |
missense variant |
G/A
|
snv
|
9.2E-05
|
3.5E-05
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1990 |
2012 |
rs1126809
|
0.683 |
0.320 |
11 |
89284793 |
missense variant |
G/A
|
snv
|
0.18
|
0.18
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs28940876
|
0.827 |
0.160 |
11 |
89178195 |
missense variant |
C/T
|
snv
|
8.4E-05
|
1.7E-04
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs28940879
|
0.851 |
0.160 |
11 |
89178117 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
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
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
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
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
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
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61753185
|
0.882 |
0.160 |
11 |
89178183 |
missense variant |
G/A
|
snv
|
8.4E-05
|
5.6E-05
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
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
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61754379
|
1.000 |
0.160 |
11 |
89191355 |
missense variant |
A/G
|
snv
|
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61754381
|
0.790 |
0.200 |
11 |
89227816 |
splice region variant |
T/A;C
|
snv
|
9.5E-04;
8.0E-06
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs61754388
|
0.827 |
0.160 |
11 |
89227904 |
missense variant |
C/A
|
snv
|
3.4E-04
|
5.0E-04
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs62645904
|
0.827 |
0.160 |
11 |
89191214 |
stop gained |
C/A;T
|
snv
|
1.9E-04
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs62645914
|
1.000 |
0.160 |
11 |
89227954 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs62645916
|
0.882 |
0.160 |
11 |
89284787 |
stop gained |
G/A;T
|
snv
|
3.6E-05
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs63159160
|
0.882 |
0.160 |
11 |
89178602 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.8E-04
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs757754120
|
0.925 |
0.160 |
11 |
89191262 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs773970123
|
0.925 |
0.160 |
11 |
89227823 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
8.0E-06
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|