rs121912615
|
1.000 |
0.080 |
3 |
165046998 |
missense variant |
A/C;G
|
snv
|
1.6E-03
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1996 |
2017 |
rs121912616
|
1.000 |
0.080 |
3 |
165021265 |
missense variant |
C/T
|
snv
|
1.2E-03
|
1.5E-03
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1996 |
2018 |
rs79717168
|
1.000 |
0.080 |
3 |
164983015 |
missense variant |
A/C
|
snv
|
9.7E-04
|
1.1E-03
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1996 |
2012 |
rs121912611
|
1.000 |
0.080 |
3 |
165019732 |
missense variant |
T/G
|
snv
|
1.6E-05
|
2.1E-05
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1996 |
2006 |
rs121912612
|
1.000 |
0.080 |
3 |
165069101 |
missense variant |
T/C
|
snv
|
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1996 |
2006 |
rs121912613
|
1.000 |
0.080 |
3 |
165046869 |
missense variant |
A/G
|
snv
|
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1996 |
2006 |
rs121912614
|
1.000 |
0.080 |
3 |
165017621 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1996 |
2006 |
rs267607049
|
1.000 |
0.080 |
3 |
165060026 |
missense variant |
A/G
|
snv
|
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1996 |
2006 |
rs765433197
|
1.000 |
0.080 |
3 |
165046948 |
missense variant |
A/G
|
snv
|
4.4E-05
|
4.2E-05
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1996 |
2006 |
rs143388292
|
1.000 |
0.080 |
3 |
165009359 |
missense variant |
T/C
|
snv
|
2.6E-04
|
3.4E-04
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553775177
|
1.000 |
0.080 |
3 |
165040938 |
splice donor variant |
A/C
|
snv
|
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1465957886
|
1.000 |
0.120 |
3 |
165046930 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Cardiomyopathies
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1465957886
|
1.000 |
0.120 |
3 |
165046930 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Glycogen storage disease due to acid maltase deficiency, infantile onset
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1472425299
|
1.000 |
0.080 |
3 |
165069176 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Amyotrophic Lateral Sclerosis
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs551975446
|
0.925 |
0.120 |
3 |
165043125 |
missense variant |
G/C
|
snv
|
4.8E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1994 |
1994 |
rs551975446
|
0.925 |
0.120 |
3 |
165043125 |
missense variant |
G/C
|
snv
|
4.8E-05
|
|
Generalized glycogen storage disease of infants
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1994 |
1994 |
rs779692980
|
1.000 |
0.080 |
3 |
164996634 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
1.6E-05
|
|
Sucrase-isomaltase deficiency, congenital
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |