rs1801265
|
0.763 |
0.280 |
1 |
97883329 |
missense variant |
A/G
|
snv
|
|
0.28
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs1801266
|
1.000 |
0.080 |
1 |
97691776 |
missense variant |
G/A
|
snv
|
8.0E-05
|
3.5E-05
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
1997 |
1997 |
rs72549310
|
1.000 |
0.080 |
1 |
97883353 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2014 |
rs1057516357
|
1.000 |
0.080 |
1 |
97573759 |
splice donor variant |
C/A
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1057516968
|
1.000 |
0.080 |
1 |
97515785 |
stop gained |
G/A
|
snv
|
8.0E-06
|
3.5E-05
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs141597515
|
1.000 |
0.080 |
1 |
97828139 |
stop gained |
G/A
|
snv
|
1.6E-05
|
3.5E-05
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs146170505
|
1.000 |
0.080 |
1 |
97699370 |
stop gained |
C/A
|
snv
|
3.2E-05
|
7.0E-06
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1553201476
|
1.000 |
0.080 |
1 |
97593304 |
frameshift variant |
CA/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs746991079
|
1.000 |
0.080 |
1 |
97193112 |
frameshift variant |
T/-
|
del
|
3.6E-05
|
6.3E-05
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs749571474
|
1.000 |
0.080 |
1 |
97593236 |
frameshift variant |
AT/-
|
delins
|
4.0E-06
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs773499329
|
1.000 |
0.080 |
1 |
97373561 |
frameshift variant |
TGCCCACAGGCCAGGC/-
|
delins
|
|
2.1E-05
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1057516356
|
1.000 |
0.080 |
1 |
97721672 |
splice acceptor variant |
C/G
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516388
|
1.000 |
0.080 |
1 |
97450101 |
stop gained |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516405
|
1.000 |
0.080 |
1 |
97883262 |
splice donor variant |
A/T
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516510
|
1.000 |
0.080 |
1 |
97234956 |
frameshift variant |
AGGT/GC
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516615
|
1.000 |
0.080 |
1 |
97549566 |
frameshift variant |
G/-
|
del
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516671
|
1.000 |
0.080 |
1 |
97450133 |
stop gained |
C/A
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516696
|
1.000 |
0.080 |
1 |
97595167 |
splice acceptor variant |
C/G
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516710
|
1.000 |
0.080 |
1 |
97382397 |
frameshift variant |
G/-
|
del
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516711
|
1.000 |
0.080 |
1 |
97595107 |
frameshift variant |
A/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516713
|
1.000 |
0.080 |
1 |
97549746 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516761
|
1.000 |
0.080 |
1 |
97573783 |
frameshift variant |
C/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516763
|
1.000 |
0.080 |
1 |
97721509 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516828
|
1.000 |
0.080 |
1 |
97305271 |
frameshift variant |
-/T
|
ins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516873
|
1.000 |
0.080 |
1 |
97098575 |
stop gained |
T/A;C
|
snv
|
4.0E-06
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|