rs104893894
|
0.925 |
0.120 |
5 |
35871070 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
2 |
1998 |
2000 |
rs193922641
|
0.882 |
0.120 |
5 |
35867437 |
missense variant |
G/A
|
snv
|
1.2E-05
|
4.2E-05
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs199641706
|
1.000 |
0.120 |
5 |
35867417 |
synonymous variant |
T/A;C
|
snv
|
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2016 |
rs200803157
|
1.000 |
0.120 |
5 |
35860851 |
splice acceptor variant |
G/A
|
snv
|
|
7.0E-06
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2015 |
rs869312857
|
1.000 |
0.120 |
5 |
35867438 |
frameshift variant |
-/A
|
delins
|
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs104893893
|
1.000 |
0.120 |
5 |
35873593 |
stop gained |
G/A
|
snv
|
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1315265916
|
1.000 |
0.120 |
5 |
35873479 |
splice acceptor variant |
G/A
|
snv
|
1.2E-05
|
2.1E-05
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1554066684
|
1.000 |
0.120 |
5 |
35867372 |
frameshift variant |
GAAA/-
|
delins
|
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1554067182
|
1.000 |
0.120 |
5 |
35874494 |
frameshift variant |
-/C
|
delins
|
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1561423197
|
1.000 |
0.120 |
5 |
35871112 |
frameshift variant |
TT/-
|
delins
|
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs200044623
|
1.000 |
0.120 |
5 |
35860992 |
splice donor variant |
T/G
|
snv
|
4.0E-05
|
2.1E-05
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs766555082
|
1.000 |
0.120 |
5 |
35873646 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|