rs104894025
|
1.000 |
0.080 |
7 |
33021317 |
missense variant |
T/A
|
snv
|
1.2E-05
|
2.1E-05
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
|
0 |
|
|
rs104894028
|
1.000 |
0.080 |
7 |
33017461 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
|
0 |
|
|
rs104894029
|
0.925 |
0.080 |
7 |
33015741 |
missense variant |
C/G
|
snv
|
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
|
0 |
|
|
rs4316067
|
|
|
7 |
33041902 |
intron variant |
A/C;G
|
snv
|
|
0.34
|
RDW - Red blood cell distribution width result
|
|
0.700 |
1.000 |
2 |
2017 |
2019 |
rs4316067
|
|
|
7 |
33041902 |
intron variant |
A/C;G
|
snv
|
|
0.34
|
Red cell distribution width determination
|
|
0.700 |
1.000 |
2 |
2017 |
2019 |
rs369837642
|
|
|
7 |
33045761 |
intron variant |
TT/-;T;TTT
|
delins
|
|
0.36
|
Red cell distribution width determination
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs369837642
|
|
|
7 |
33045761 |
intron variant |
TT/-;T;TTT
|
delins
|
|
0.36
|
RDW - Red blood cell distribution width result
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs6948759
|
|
|
7 |
33056076 |
intron variant |
T/A;C
|
snv
|
|
|
Glomerular Filtration Rate
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs104894026
|
1.000 |
0.080 |
7 |
33017501 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs104894027
|
1.000 |
0.080 |
7 |
33017487 |
stop gained |
A/C
|
snv
|
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs397518435
|
1.000 |
0.080 |
7 |
33015871 |
splice acceptor variant |
C/A;G
|
snv
|
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs397518436
|
1.000 |
0.080 |
7 |
33015718 |
frameshift variant |
-/CC
|
delins
|
1.6E-05
|
7.0E-06
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs397518437
|
1.000 |
0.080 |
7 |
33019678 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs397518438
|
1.000 |
0.080 |
7 |
33017453 |
frameshift variant |
C/-
|
delins
|
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs766577643
|
0.925 |
0.120 |
7 |
33024078 |
missense variant |
T/C;G
|
snv
|
8.0E-06
|
|
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs104894029
|
0.925 |
0.080 |
7 |
33015741 |
missense variant |
C/G
|
snv
|
|
|
Nonspherocytic hemolytic anemia
|
Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs3750117
|
1.000 |
0.040 |
7 |
33021334 |
synonymous variant |
A/G
|
snv
|
0.68
|
0.72
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs753346459
|
1.000 |
0.080 |
7 |
33026888 |
stop gained |
G/A;C
|
snv
|
8.0E-06
|
|
Gilbert Disease (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs766577643
|
0.925 |
0.120 |
7 |
33024078 |
missense variant |
T/C;G
|
snv
|
8.0E-06
|
|
Gilbert Disease (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |