rs104894451
|
1.000 |
0.120 |
14 |
20476432 |
missense variant |
G/A;C
|
snv
|
4.8E-05;
8.0E-05
|
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
5 |
1987 |
2011 |
rs104894450
|
1.000 |
0.120 |
14 |
20474870 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
3 |
1987 |
1996 |
rs104894452
|
1.000 |
0.120 |
14 |
20475175 |
missense variant |
A/G;T
|
snv
|
|
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
3 |
1987 |
1996 |
rs104894453
|
1.000 |
0.120 |
14 |
20474555 |
missense variant |
G/A
|
snv
|
2.0E-05
|
1.4E-05
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
3 |
1987 |
1996 |
rs104894454
|
1.000 |
0.120 |
14 |
20475120 |
missense variant |
G/C;T
|
snv
|
8.0E-06
|
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
3 |
1987 |
1996 |
rs1026474882
|
1.000 |
0.120 |
14 |
20474755 |
non coding transcript exon variant |
G/A;C
|
snv
|
3.6E-05;
4.0E-05;
2.0E-05;
4.0E-06
|
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
1997 |
2014 |
rs104894455
|
1.000 |
0.120 |
14 |
20472366 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs104894460
|
1.000 |
0.120 |
14 |
20472468 |
stop gained |
C/T
|
snv
|
4.4E-05
|
3.5E-05
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1566525400
|
1.000 |
0.120 |
14 |
20474576 |
splice donor variant |
G/A
|
snv
|
|
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs138702206
|
1.000 |
0.120 |
14 |
20475249 |
missense variant |
G/A
|
snv
|
1.5E-03
|
5.9E-03
|
Purine-nucleoside phosphorylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |