rs104894313
|
0.807 |
0.160 |
11 |
89284805 |
missense variant |
C/T
|
snv
|
3.8E-03;
4.0E-06
|
3.7E-03
|
Albinism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs104894314
|
0.790 |
0.160 |
11 |
89191205 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
9.2E-05
|
|
Albinism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1126809
|
0.683 |
0.320 |
11 |
89284793 |
missense variant |
G/A
|
snv
|
0.18
|
0.18
|
Albinism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2013 |
2013 |
rs121908011
|
0.827 |
0.160 |
11 |
89227933 |
missense variant |
G/A
|
snv
|
9.2E-05
|
3.5E-05
|
Albinism
|
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
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
1990 |
1990 |
rs28940877
|
0.807 |
0.200 |
11 |
89178218 |
missense variant |
T/C
|
snv
|
4.0E-06
|
2.1E-05
|
Albinism
|
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
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs376823382
|
0.827 |
0.200 |
11 |
89284940 |
missense variant |
A/G
|
snv
|
1.9E-04
|
2.2E-04
|
Albinism
|
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
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs61753253
|
0.925 |
0.160 |
11 |
89178278 |
missense variant |
G/A
|
snv
|
5.2E-05
|
8.4E-05
|
Albinism
|
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
|
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
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs62645904
|
0.827 |
0.160 |
11 |
89191214 |
stop gained |
C/A;T
|
snv
|
1.9E-04
|
|
Albinism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs749979474
|
1.000 |
0.160 |
11 |
89284852 |
missense variant |
C/T
|
snv
|
1.6E-05
|
4.2E-05
|
Albinism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |