rs724160029
|
1.000 |
0.080 |
8 |
76983313 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs61752128
|
1.000 |
0.080 |
8 |
76983440 |
missense variant |
A/G
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs267608188
|
0.925 |
0.080 |
8 |
76983341 |
frameshift variant |
AAGTA/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs267608188
|
0.925 |
0.080 |
8 |
76983341 |
frameshift variant |
AAGTA/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs61752119
|
1.000 |
0.080 |
8 |
76984016 |
missense variant |
C/T
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
1 |
1999 |
1999 |
rs61752127
|
1.000 |
0.080 |
8 |
76983510 |
stop gained |
C/T
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554584474
|
0.925 |
0.080 |
8 |
76983676 |
frameshift variant |
CT/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554584474
|
0.925 |
0.080 |
8 |
76983676 |
frameshift variant |
CT/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554584487
|
0.925 |
0.080 |
8 |
76983707 |
frameshift variant |
G/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554584487
|
0.925 |
0.080 |
8 |
76983707 |
frameshift variant |
G/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs61752123
|
0.925 |
0.080 |
8 |
76983824 |
stop gained |
G/A;C
|
snv
|
1.4E-04;
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1992 |
2012 |
rs61752123
|
0.925 |
0.080 |
8 |
76983824 |
stop gained |
G/A;C
|
snv
|
1.4E-04;
4.0E-06
|
|
Peroxisome biogenesis disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
1998 |
2017 |
rs61752123
|
0.925 |
0.080 |
8 |
76983824 |
stop gained |
G/A;C
|
snv
|
1.4E-04;
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1992 |
2004 |
rs61752124
|
0.925 |
0.080 |
8 |
76983806 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs61752124
|
0.925 |
0.080 |
8 |
76983806 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs61752124
|
0.925 |
0.080 |
8 |
76983806 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Peroxisome biogenesis disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2011 |
rs200065382
|
0.925 |
0.080 |
8 |
76983875 |
stop gained |
G/A;T
|
snv
|
1.5E-04
|
3.0E-04
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs200065382
|
0.925 |
0.080 |
8 |
76983875 |
stop gained |
G/A;T
|
snv
|
1.5E-04
|
3.0E-04
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554584505
|
0.925 |
0.080 |
8 |
76983824 |
frameshift variant |
GT/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554584505
|
0.925 |
0.080 |
8 |
76983824 |
frameshift variant |
GT/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs61752122
|
1.000 |
0.080 |
8 |
76983896 |
frameshift variant |
TCTCA/-
|
delins
|
1.6E-05
|
1.4E-05
|
Peroxisome biogenesis disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2011 |
rs61752122
|
1.000 |
0.080 |
8 |
76983896 |
frameshift variant |
TCTCA/-
|
delins
|
1.6E-05
|
1.4E-05
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs764771123
|
0.925 |
0.080 |
8 |
76983834 |
frameshift variant |
TGCCACC/-
|
delins
|
3.2E-05
|
7.0E-06
|
Peroxisome biogenesis disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs764771123
|
0.925 |
0.080 |
8 |
76983834 |
frameshift variant |
TGCCACC/-
|
delins
|
3.2E-05
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 5B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs764771123
|
0.925 |
0.080 |
8 |
76983834 |
frameshift variant |
TGCCACC/-
|
delins
|
3.2E-05
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |