rs75037667
|
1.000 |
0.120 |
19 |
12813438 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2006 |
2010 |
rs76436818
|
1.000 |
0.120 |
19 |
12807328 |
missense variant |
C/A;G;T
|
snv
|
2.4E-05;
1.2E-05
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2006 |
2010 |
rs76857106
|
1.000 |
0.120 |
19 |
12806782 |
missense variant |
G/A
|
snv
|
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2006 |
2010 |
rs77103971
|
0.925 |
0.120 |
19 |
12810323 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.8E-05
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2006 |
2010 |
rs79767407
|
1.000 |
0.120 |
19 |
12813135 |
missense variant |
C/A
|
snv
|
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2006 |
2010 |
rs549586181
|
1.000 |
0.120 |
19 |
12807209 |
frameshift variant |
-/A
|
delins
|
9.9E-05
|
4.5E-04
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs397515479
|
1.000 |
0.120 |
19 |
12806748 |
synonymous variant |
C/T
|
snv
|
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515480
|
1.000 |
0.120 |
19 |
12806742 |
synonymous variant |
G/A
|
snv
|
1.7E-05
|
7.0E-06
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs753679297
|
1.000 |
0.120 |
19 |
12810324 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs75718910
|
1.000 |
0.120 |
19 |
12813149 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs77672568
|
1.000 |
0.120 |
19 |
12807212 |
frameshift variant |
-/G
|
delins
|
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs78705193
|
1.000 |
0.120 |
19 |
12813158 |
frameshift variant |
-/GC
|
delins
|
4.0E-06
|
7.0E-06
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs79843600
|
1.000 |
0.120 |
19 |
12813164 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
2.4E-05
|
|
AICARDI-GOUTIERES SYNDROME 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|