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 |
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 |
rs1800546
|
1.000 |
0.080 |
9 |
101427574 |
missense variant |
C/G
|
snv
|
3.0E-03
|
3.1E-03
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
16 |
1983 |
2017 |
rs387906225
|
1.000 |
0.080 |
9 |
101428485 |
frameshift variant |
TGTT/-
|
delins
|
|
7.0E-05
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1990 |
2015 |
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 |
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 |
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 |
rs781023784
|
1.000 |
0.080 |
9 |
101429858 |
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 |
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 |
rs118204428
|
1.000 |
0.080 |
9 |
101430878 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1994 |
2010 |
rs118204429
|
1.000 |
0.080 |
9 |
101429901 |
stop gained |
G/A;T
|
snv
|
8.4E-05;
1.2E-05
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1994 |
2015 |
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 |
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 |
rs750026492
|
1.000 |
0.080 |
9 |
101429755 |
splice region variant |
C/T
|
snv
|
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2002 |
2010 |
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 |
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 |
rs1057516534
|
1.000 |
0.080 |
9 |
101430775 |
splice donor variant |
C/-
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057516902
|
1.000 |
0.080 |
9 |
101427578 |
stop gained |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
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 |
rs1554702666
|
1.000 |
0.080 |
9 |
101427643 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs181639417
|
1.000 |
0.080 |
9 |
101435708 |
splice donor variant |
C/G
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs752902486
|
1.000 |
0.080 |
9 |
101427500 |
stop gained |
G/A;C
|
snv
|
3.6E-05
|
2.8E-05
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs764826805
|
1.000 |
0.080 |
9 |
101429754 |
splice donor variant |
C/T
|
snv
|
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs786204598
|
1.000 |
0.080 |
9 |
101429964 |
splice acceptor variant |
CCTA/-
|
delins
|
4.0E-06
|
2.8E-05
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
1990 |
1990 |