rs587782292
|
1.000 |
0.200 |
11 |
108365359 |
missense variant |
C/G;T
|
snv
|
1.6E-05
|
2.1E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
29 |
1995 |
2017 |
rs397514577
|
0.882 |
0.280 |
11 |
108317374 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
25 |
1995 |
2017 |
rs587779872
|
1.000 |
0.200 |
11 |
108345818 |
missense variant |
C/T
|
snv
|
3.2E-05
|
1.4E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
25 |
1995 |
2017 |
rs121434216
|
0.925 |
0.200 |
11 |
108345804 |
missense variant |
T/G
|
snv
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
23 |
1995 |
2017 |
rs587782202
|
1.000 |
0.200 |
11 |
108345870 |
missense variant |
G/A;C
|
snv
|
2.0E-05
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
23 |
1995 |
2017 |
rs587781302
|
1.000 |
0.200 |
11 |
108315863 |
missense variant |
A/G;T
|
snv
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1995 |
2017 |
rs786202826
|
0.925 |
0.280 |
11 |
108353805 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1995 |
2017 |
rs876659365
|
1.000 |
0.200 |
11 |
108330314 |
missense variant |
T/G
|
snv
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1995 |
2017 |
rs28904921
|
0.763 |
0.320 |
11 |
108329202 |
missense variant |
T/G
|
snv
|
4.0E-05
|
6.3E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1996 |
2016 |
rs564652222
|
0.925 |
0.280 |
11 |
108325416 |
missense variant |
C/A;T
|
snv
|
|
1.4E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
11 |
2003 |
2014 |
rs587779852
|
0.882 |
0.280 |
11 |
108312424 |
stop gained |
G/T
|
snv
|
4.4E-05
|
3.5E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
9 |
1999 |
2014 |
rs587782652
|
0.851 |
0.320 |
11 |
108335105 |
missense variant |
T/C
|
snv
|
3.2E-05
|
4.2E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
11 |
1989 |
2019 |
rs770641163
|
0.882 |
0.360 |
11 |
108365208 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
9 |
2003 |
2019 |
rs121434218
|
0.925 |
0.200 |
11 |
108333925 |
missense variant |
T/C;G
|
snv
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
22 |
1995 |
2017 |
rs1555114558
|
1.000 |
0.200 |
11 |
108317377 |
missense variant |
T/C
|
snv
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
22 |
1995 |
2017 |
rs876659735
|
1.000 |
0.200 |
11 |
108335063 |
missense variant |
T/G
|
snv
|
|
7.0E-06
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
22 |
1995 |
2017 |
rs876660927
|
1.000 |
0.200 |
11 |
108345795 |
missense variant |
G/A;C
|
snv
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
22 |
1995 |
2017 |
rs780905851
|
1.000 |
0.200 |
11 |
108345889 |
missense variant |
T/A;C;G
|
snv
|
8.0E-06;
4.0E-06
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1995 |
2017 |
rs121434220
|
1.000 |
0.200 |
11 |
108330233 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1996 |
2016 |
rs587781894
|
0.882 |
0.360 |
11 |
108365360 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
7.0E-06
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1998 |
2013 |
rs17174393
|
0.882 |
0.280 |
11 |
108353881 |
splice donor variant |
G/A;C;T
|
snv
|
1.6E-05
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
1996 |
2014 |
rs371638537
|
1.000 |
0.200 |
11 |
108335959 |
stop gained |
A/C;G;T
|
snv
|
1.6E-05
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
1996 |
2016 |
rs139770721
|
0.925 |
0.280 |
11 |
108315911 |
missense variant |
G/A
|
snv
|
2.8E-05
|
7.0E-06
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
12 |
1999 |
2016 |
rs587776547
|
0.882 |
0.320 |
11 |
108331885 |
inframe deletion |
TAGAATTTC/-
|
delins
|
2.8E-05
|
1.4E-05
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
12 |
1995 |
2012 |
rs587780645
|
1.000 |
0.200 |
11 |
108365415 |
frameshift variant |
-/A
|
delins
|
|
|
Ataxia Telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
12 |
1996 |
2016 |