rs121918188
|
0.925 |
0.080 |
9 |
94609998 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1997 |
2016 |
rs566453434
|
1.000 |
0.080 |
9 |
94603557 |
stop gained |
C/A;T
|
snv
|
7.6E-05
|
7.0E-06
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
4 |
2013 |
2018 |
rs121918189
|
1.000 |
0.080 |
9 |
94609958 |
missense variant |
G/A;T
|
snv
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
1997 |
2015 |
rs121918191
|
1.000 |
0.080 |
9 |
94606939 |
missense variant |
A/G
|
snv
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
1997 |
2015 |
rs121918192
|
1.000 |
0.080 |
9 |
94603547 |
missense variant |
G/C
|
snv
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
1997 |
2015 |
rs121918188
|
0.925 |
0.080 |
9 |
94609998 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Hypoglycemia
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs111437558
|
1.000 |
0.080 |
9 |
94605456 |
splice donor variant |
C/G;T
|
snv
|
4.0E-06
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918190
|
1.000 |
0.080 |
9 |
94639223 |
stop gained |
C/A;T
|
snv
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1563983184
|
1.000 |
0.080 |
9 |
94617767 |
splice donor variant |
C/A
|
snv
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1563983269
|
1.000 |
0.080 |
9 |
94617845 |
missense variant |
A/G
|
snv
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs758609113
|
1.000 |
0.080 |
9 |
94617839 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs766005419
|
1.000 |
0.080 |
9 |
94610016 |
missense variant |
G/A
|
snv
|
3.2E-05
|
2.1E-05
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs780803192
|
1.000 |
0.080 |
9 |
94605504 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060499726
|
1.000 |
0.080 |
9 |
94605553 |
frameshift variant |
CCCCATAAGG/-
|
delins
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1563984164
|
1.000 |
0.080 |
9 |
94620329 |
splice acceptor variant |
CTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAGC/-
|
delins
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs761470205
|
1.000 |
0.080 |
9 |
94606906 |
frameshift variant |
TTTT/-
|
delins
|
8.0E-06
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs774362519
|
1.000 |
0.080 |
9 |
94606816 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1563991556
|
1.000 |
0.080 |
9 |
94639141 |
frameshift variant |
AGGTGCGCGATGCCCGCCTTGCGCACCGCCGAAGAGATGGCTTTGACTGCTGTGCAGAGCGAGTTGAGCAGCTGGGTCAACTCGCCCGTGCCGCGGGCCTTCCTGCCCTCCTCCATGACGAAGCGGGTCAGGGTGTTGACGTCCGTGTCGAAGGGCGCCTGGTCAGCCAT/-
|
del
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs757653154
|
1.000 |
0.080 |
9 |
94603437 |
frameshift variant |
-/C
|
ins
|
8.0E-05
|
2.2E-04
|
Fructose-1,6-Diphosphatase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|