rs751583656
|
1.000 |
0.120 |
19 |
12896339 |
missense variant |
G/A
|
snv
|
2.4E-05
|
1.4E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs768925619
|
1.000 |
0.120 |
19 |
12897406 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2014 |
rs786204627
|
1.000 |
0.120 |
19 |
12896019 |
missense variant |
G/A
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1996 |
2014 |
rs745360675
|
1.000 |
0.120 |
19 |
12899510 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1998 |
2014 |
rs754002357
|
1.000 |
0.120 |
19 |
12897787 |
frameshift variant |
G/-;GG
|
delins
|
8.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1996 |
2015 |
rs1057516521
|
1.000 |
0.120 |
19 |
12891921 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2002 |
2015 |
rs1555749853
|
1.000 |
0.120 |
19 |
12893485 |
missense variant |
T/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2017 |
rs1555751089
|
1.000 |
0.120 |
19 |
12897400 |
stop gained |
C/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2011 |
rs1555751995
|
1.000 |
0.120 |
19 |
12899541 |
stop lost |
A/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2010 |
rs771650894
|
1.000 |
0.120 |
19 |
12896366 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs786204639
|
1.000 |
0.120 |
19 |
12891975 |
splice donor variant |
G/A
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2012 |
rs1057517407
|
1.000 |
0.120 |
19 |
12896930 |
frameshift variant |
C/-
|
del
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1057517410
|
1.000 |
0.120 |
19 |
12896908 |
splice acceptor variant |
A/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1176799813
|
1.000 |
0.120 |
19 |
12893627 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1555750542
|
1.000 |
0.120 |
19 |
12896213 |
frameshift variant |
-/TCGC
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs398123195
|
1.000 |
0.120 |
19 |
12896204 |
splice acceptor variant |
G/A
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs745852738
|
1.000 |
0.120 |
19 |
12896027 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs758137643
|
1.000 |
0.120 |
19 |
12892178 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs761491320
|
1.000 |
0.120 |
19 |
12896417 |
frameshift variant |
T/-
|
del
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs794726972
|
1.000 |
0.120 |
19 |
12897343 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs898043081
|
1.000 |
0.120 |
19 |
12891929 |
stop gained |
C/G;T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1003611285
|
1.000 |
0.120 |
19 |
12893590 |
missense variant |
G/A;T
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1006150317
|
1.000 |
0.120 |
19 |
12891875 |
stop gained |
G/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1008834111
|
1.000 |
0.120 |
19 |
12896320 |
stop gained |
C/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516522
|
1.000 |
0.120 |
19 |
12891383 |
frameshift variant |
CG/-
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|