rs121912620
|
1.000 |
0.160 |
5 |
33944784 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121912621
|
1.000 |
0.160 |
5 |
33982329 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs760780597
|
1.000 |
0.160 |
5 |
33982320 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
7 |
2001 |
2013 |
rs121912619
|
1.000 |
0.160 |
5 |
33951628 |
missense variant |
A/G
|
snv
|
4.0E-05
|
6.3E-05
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs1290584600
|
1.000 |
0.160 |
5 |
33984412 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs1352999116
|
1.000 |
0.160 |
5 |
33944812 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.1E-05
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs144503724
|
1.000 |
0.160 |
5 |
33947277 |
missense variant |
G/A;T
|
snv
|
3.5E-04;
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs146802593
|
1.000 |
0.160 |
5 |
33963973 |
missense variant |
C/G
|
snv
|
2.3E-04
|
1.8E-04
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs146930801
|
1.000 |
0.160 |
5 |
33951665 |
missense variant |
C/T
|
snv
|
7.2E-05
|
4.9E-05
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs372465070
|
1.000 |
0.160 |
5 |
33951668 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs553073635
|
1.000 |
0.160 |
5 |
33954489 |
missense variant |
T/A
|
snv
|
4.5E-04
|
8.4E-05
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs762813061
|
1.000 |
0.160 |
5 |
33984256 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs775387808
|
1.000 |
0.160 |
5 |
33984320 |
frameshift variant |
G/-
|
del
|
|
1.0E-04
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2005 |
2014 |
rs759411189
|
1.000 |
0.160 |
5 |
33947258 |
frameshift variant |
G/-
|
delins
|
1.6E-05
|
7.0E-06
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057518722
|
1.000 |
0.160 |
5 |
33984420 |
frameshift variant |
-/A
|
delins
|
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1294369944
|
1.000 |
0.160 |
5 |
33947162 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1307137184
|
1.000 |
0.160 |
5 |
33951608 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs387906317
|
1.000 |
0.160 |
5 |
33954407 |
frameshift variant |
G/-
|
del
|
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs387906318
|
1.000 |
0.160 |
5 |
33963915 |
inframe deletion |
GAA/-
|
delins
|
|
7.0E-06
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs562624441
|
1.000 |
0.160 |
5 |
33984374 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs730880270
|
1.000 |
0.160 |
5 |
33964017 |
splice acceptor variant |
C/T
|
snv
|
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs730880271
|
1.000 |
0.160 |
5 |
33951589 |
frameshift variant |
A/-
|
delins
|
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs753485165
|
1.000 |
0.160 |
5 |
33951633 |
frameshift variant |
CT/-
|
delins
|
|
4.9E-05
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs797045970
|
1.000 |
0.160 |
5 |
33964001 |
missense variant |
A/C
|
snv
|
|
7.0E-06
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs925113610
|
1.000 |
0.160 |
5 |
33984405 |
missense variant |
A/C
|
snv
|
8.0E-06
|
|
Oculocutaneous Albinism, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|