|
rs1179536678
|
1.000 |
0.080 |
13 |
100089121 |
frameshift variant |
-/T
|
delins
|
|
7.0E-06
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs121964957
|
1.000 |
0.080 |
13 |
100268731 |
stop gained |
A/C;G;T
|
snv
|
6.4E-05;
4.0E-06
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1241896966
|
1.000 |
0.080 |
13 |
100527690 |
stop gained |
G/T
|
snv
|
|
7.0E-06
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1301904623
|
1.000 |
0.080 |
13 |
100301590 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1389933015
|
1.000 |
0.080 |
13 |
100530089 |
intron variant |
A/G
|
snv
|
|
1.4E-05
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555298451
|
1.000 |
0.080 |
13 |
100449251 |
splice acceptor variant |
G/A
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555327702
|
1.000 |
0.080 |
13 |
100515553 |
frameshift variant |
A/-
|
delins
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555327732
|
1.000 |
0.080 |
13 |
100515568 |
splice donor variant |
G/T
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555342593
|
1.000 |
0.080 |
13 |
100102962 |
splice donor variant |
T/C
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555400381
|
1.000 |
0.080 |
13 |
100268712 |
frameshift variant |
T/-
|
del
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555422449
|
1.000 |
0.080 |
13 |
100330673 |
splice donor variant |
T/A
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs199604072
|
1.000 |
0.080 |
13 |
100330672 |
splice donor variant |
G/C;T
|
snv
|
4.0E-06
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs202247816
|
1.000 |
0.080 |
13 |
100368513 |
stop gained |
C/G
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs367615795
|
1.000 |
0.080 |
13 |
100273195 |
splice acceptor variant |
G/A;C
|
snv
|
4.0E-06
|
7.0E-06
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs375628794
|
1.000 |
0.080 |
13 |
100257643 |
missense variant |
T/A;C
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs764045674
|
1.000 |
0.080 |
13 |
100307262 |
splice region variant |
GTTTA/-
|
delins
|
1.6E-05
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs794727087
|
1.000 |
0.080 |
13 |
100301530 |
missense variant |
G/T
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs1555331314
|
1.000 |
0.080 |
13 |
100527737 |
frameshift variant |
T/-
|
del
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1994 |
2001 |
|
rs141371306
|
1.000 |
0.080 |
13 |
100111886 |
missense variant |
C/T
|
snv
|
2.0E-05
|
5.6E-05
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1999 |
2014 |
|
rs771438170
|
1.000 |
0.080 |
13 |
100515529 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1999 |
2016 |
|
rs1443858896
|
1.000 |
0.080 |
13 |
100302982 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
6 |
1999 |
2012 |
|
rs202247814
|
1.000 |
0.080 |
13 |
100155090 |
missense variant |
G/A
|
snv
|
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.820 |
1.000 |
6 |
1999 |
2014 |
|
rs121964958
|
1.000 |
0.080 |
13 |
100301512 |
missense variant |
T/A
|
snv
|
4.0E-06
|
7.0E-06
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
4 |
1999 |
2004 |
|
rs202247815
|
1.000 |
0.080 |
13 |
100209354 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
4 |
1999 |
2004 |
|
rs796052018
|
1.000 |
0.080 |
13 |
100449297 |
missense variant |
G/A;C
|
snv
|
6.5E-05;
2.0E-05
|
|
Propionic acidemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2016 |