rs398123302
|
0.925 |
0.080 |
17 |
35575968 |
frameshift variant |
G/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1999 |
2017 |
rs144259891
|
0.925 |
0.080 |
17 |
35577895 |
splice donor variant |
C/A;T
|
snv
|
2.4E-05;
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1997 |
2011 |
rs398123301
|
0.925 |
0.080 |
17 |
35575973 |
frameshift variant |
AG/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs61752107
|
0.925 |
0.080 |
17 |
35576128 |
frameshift variant |
-/GGCA
|
delins
|
1.6E-05
|
2.8E-05
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1997 |
2011 |
rs749650201
|
0.925 |
0.080 |
17 |
35575898 |
frameshift variant |
CCAG/-
|
delins
|
8.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1999 |
2012 |
rs941358133
|
0.925 |
0.080 |
17 |
35575884 |
stop gained |
G/T
|
snv
|
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1999 |
2012 |
rs61752102
|
0.925 |
0.080 |
17 |
35577183 |
inframe deletion |
TGT/-
|
delins
|
1.6E-05
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2004 |
2011 |
rs267608184
|
0.925 |
0.080 |
17 |
35575813 |
inframe deletion |
TGT/-
|
delins
|
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2011 |
rs61752100
|
0.925 |
0.080 |
17 |
35577447 |
frameshift variant |
CTTT/-
|
delins
|
4.4E-05
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2011 |
rs61752103
|
0.882 |
0.080 |
17 |
35577180 |
stop gained |
G/A;C
|
snv
|
3.6E-05;
8.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2011 |
rs61752106
|
0.925 |
0.080 |
17 |
35577093 |
stop gained |
G/A;T
|
snv
|
2.8E-05;
8.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2011 |
rs61752108
|
0.925 |
0.080 |
17 |
35576117 |
frameshift variant |
-/A
|
delins
|
1.6E-05;
8.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2011 |
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 |
rs776731688
|
0.925 |
0.080 |
17 |
35577384 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
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 |
|
|