rs104894616
|
1.000 |
0.080 |
17 |
35576171 |
stop gained |
T/A
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519507
|
1.000 |
0.080 |
17 |
35576095 |
frameshift variant |
-/TA
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1199283977
|
0.925 |
0.080 |
17 |
35577074 |
frameshift variant |
G/-
|
delins
|
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1214971073
|
0.925 |
0.080 |
17 |
35577524 |
frameshift variant |
GAGTA/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1238451790
|
0.925 |
0.080 |
17 |
35577945 |
stop gained |
-/GTGCTACC
|
delins
|
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs147530802
|
1.000 |
0.080 |
17 |
35577920 |
missense variant |
T/A
|
snv
|
5.7E-03
|
4.9E-03
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549754
|
0.925 |
0.080 |
17 |
35576091 |
frameshift variant |
G/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549769
|
0.925 |
0.080 |
17 |
35576172 |
frameshift variant |
CACT/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549841
|
0.925 |
0.080 |
17 |
35577054 |
stop gained |
G/A
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549862
|
0.925 |
0.080 |
17 |
35577287 |
stop gained |
GAA/TTC
|
mnv
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549876
|
0.925 |
0.080 |
17 |
35577494 |
frameshift variant |
GA/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549902
|
0.925 |
0.080 |
17 |
35577894 |
splice donor variant |
A/T
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549909
|
0.925 |
0.080 |
17 |
35577933 |
frameshift variant |
AT/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549923
|
0.925 |
0.080 |
17 |
35578020 |
start lost |
TA/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs28936697
|
0.882 |
0.080 |
17 |
35575903 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs747099919
|
0.925 |
0.080 |
17 |
35576073 |
stop gained |
C/T
|
snv
|
4.0E-06
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs754193088
|
0.925 |
0.080 |
17 |
35576081 |
frameshift variant |
G/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs765404768
|
0.925 |
0.080 |
17 |
35577496 |
stop gained |
A/T
|
snv
|
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs767447750
|
0.925 |
0.080 |
17 |
35577507 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs888633730
|
0.925 |
0.080 |
17 |
35577973 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs904972651
|
0.925 |
0.080 |
17 |
35577037 |
splice donor variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555549855
|
0.925 |
0.080 |
17 |
35577258 |
stop gained |
G/A
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs187526749
|
1.000 |
0.080 |
17 |
35576183 |
splice acceptor variant |
T/G
|
snv
|
1.0E-04
|
5.0E-05
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs61752105
|
0.925 |
0.080 |
17 |
35577114 |
stop gained |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs62642859
|
0.925 |
0.080 |
17 |
35576175 |
frameshift variant |
TAAC/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |