rs900220679
|
1.000 |
0.080 |
9 |
101421809 |
stop lost |
C/G
|
snv
|
2.0E-05
|
7.0E-06
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs369586696
|
1.000 |
0.080 |
9 |
101421877 |
missense variant |
A/G
|
snv
|
4.0E-06
|
2.1E-05
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
11 |
1988 |
2010 |
rs77718928
|
1.000 |
0.080 |
9 |
101421891 |
missense variant |
G/A;C
|
snv
|
1.5E-04;
3.2E-05
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1998 |
2015 |
rs78340951
|
1.000 |
0.080 |
9 |
101421899 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
1.2E-04
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
19 |
1988 |
2012 |
rs1172384674
|
1.000 |
0.080 |
9 |
101424878 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702328
|
1.000 |
0.080 |
9 |
101424901 |
splice acceptor variant |
-/A
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1554702325
|
1.000 |
0.080 |
9 |
101424901 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs145078268
|
1.000 |
0.080 |
9 |
101424931 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
2.1E-04
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2013 |
rs555935217
|
1.000 |
0.080 |
9 |
101424932 |
missense variant |
G/A
|
snv
|
1.2E-05
|
2.1E-05
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
11 |
1988 |
2010 |
rs1057517133
|
1.000 |
0.080 |
9 |
101424954 |
stop gained |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204425
|
1.000 |
0.080 |
9 |
101424975 |
inframe deletion |
AAG/-
|
del
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs864309533
|
1.000 |
0.080 |
9 |
101424977 |
frameshift variant |
G/-
|
delins
|
4.0E-06
|
7.0E-06
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1554702353
|
1.000 |
0.080 |
9 |
101425030 |
frameshift variant |
A/-
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs199965465
|
1.000 |
0.080 |
9 |
101425044 |
splice acceptor variant |
T/G
|
snv
|
1.6E-05
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs764701775
|
1.000 |
0.080 |
9 |
101425482 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
11 |
1988 |
2010 |
rs118204426
|
1.000 |
0.080 |
9 |
101425532 |
stop gained |
G/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702425
|
1.000 |
0.080 |
9 |
101425539 |
frameshift variant |
-/G
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702433
|
1.000 |
0.080 |
9 |
101425566 |
missense variant |
A/G
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
11 |
1988 |
2010 |
rs1554702442
|
1.000 |
0.080 |
9 |
101425588 |
missense variant |
C/A
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
11 |
1988 |
2010 |
rs1564077542
|
1.000 |
0.080 |
9 |
101425628 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs786204503
|
1.000 |
0.080 |
9 |
101425629 |
splice acceptor variant |
T/C
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2004 |
2012 |
rs370793608
|
1.000 |
0.080 |
9 |
101426567 |
stop gained |
A/C;T
|
snv
|
|
7.0E-06
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1993 |
2012 |
rs387906226
|
1.000 |
0.080 |
9 |
101426626 |
inframe deletion |
ACCAGT/-
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517091
|
1.000 |
0.080 |
9 |
101426633 |
frameshift variant |
T/-
|
del
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs76917243
|
1.000 |
0.080 |
9 |
101427498 |
missense variant |
G/T
|
snv
|
3.6E-04
|
3.0E-04
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1990 |
2015 |