rs387906268
|
1.000 |
0.160 |
20 |
44619862 |
intron variant |
A/T
|
snv
|
|
|
Partial adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555843178
|
1.000 |
|
20 |
44620297 |
splice donor variant |
A/T
|
snv
|
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs121908715
|
0.882 |
0.240 |
20 |
44620391 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.0E-04
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.800 |
1.000 |
17 |
1984 |
2015 |
rs121908715
|
0.882 |
0.240 |
20 |
44620391 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.0E-04
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1194494050
|
1.000 |
0.160 |
20 |
44620435 |
non coding transcript exon variant |
C/T
|
snv
|
4.0E-06
|
|
Partial adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs771266745
|
1.000 |
|
20 |
44621033 |
frameshift variant |
TCTTC/-;TCTTCTCTTC
|
delins
|
|
9.1E-05
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
4 |
1993 |
2016 |
rs199422327
|
1.000 |
0.160 |
20 |
44621082 |
missense variant |
A/C
|
snv
|
4.4E-05
|
2.1E-05
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121908718
|
0.925 |
0.160 |
20 |
44621103 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
2.8E-05
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
11 |
1984 |
1998 |
rs121908718
|
0.925 |
0.160 |
20 |
44621103 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
2.8E-05
|
|
Partial adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121908721
|
0.882 |
0.160 |
20 |
44621121 |
missense variant |
G/A;C
|
snv
|
2.4E-05
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.800 |
1.000 |
15 |
1984 |
2015 |
rs121908721
|
0.882 |
0.160 |
20 |
44621121 |
missense variant |
G/A;C
|
snv
|
2.4E-05
|
|
Severe Combined Immunodeficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.710 |
1.000 |
0 |
2019 |
2019 |
rs121908721
|
0.882 |
0.160 |
20 |
44621121 |
missense variant |
G/A;C
|
snv
|
2.4E-05
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs766590645
|
1.000 |
|
20 |
44622587 |
splice donor variant |
C/G
|
snv
|
4.0E-06
|
1.4E-05
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
|
0 |
|
|
rs751635016
|
1.000 |
0.120 |
20 |
44622588 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Severe Combined Immunodeficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs121908738
|
1.000 |
|
20 |
44622612 |
missense variant |
G/A
|
snv
|
4.4E-05
|
7.0E-05
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
11 |
1984 |
1998 |
rs1555844006
|
1.000 |
|
20 |
44622643 |
frameshift variant |
A/-
|
del
|
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
|
0 |
|
|
rs757796081
|
1.000 |
|
20 |
44622647 |
splice acceptor variant |
-/CCAGA
|
delins
|
|
2.8E-05
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
|
0 |
|
|
rs1555844120
|
1.000 |
|
20 |
44622873 |
stop gained |
G/A
|
snv
|
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs79281338
|
1.000 |
|
20 |
44622905 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
6 |
2001 |
2019 |
rs778809577
|
1.000 |
|
20 |
44622906 |
missense variant |
G/A;T
|
snv
|
1.6E-05;
4.0E-06
|
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
1.000 |
4 |
1995 |
2015 |
rs121908729
|
1.000 |
0.160 |
20 |
44622911 |
missense variant |
G/A
|
snv
|
|
|
Partial adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121908723
|
0.851 |
0.240 |
20 |
44623039 |
missense variant |
C/T
|
snv
|
1.2E-05
|
5.6E-05
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.800 |
1.000 |
18 |
1984 |
2016 |
rs121908723
|
0.851 |
0.240 |
20 |
44623039 |
missense variant |
C/T
|
snv
|
1.2E-05
|
5.6E-05
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs114025668
|
1.000 |
|
20 |
44623042 |
missense variant |
C/T
|
snv
|
9.9E-05
|
2.9E-04
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.700 |
|
0 |
|
|
rs121908716
|
0.925 |
0.160 |
20 |
44623053 |
missense variant |
C/T
|
snv
|
7.2E-05
|
9.8E-05
|
SCID Due to ADA Deficiency, Early-Onset
|
|
0.800 |
1.000 |
18 |
1984 |
2015 |