rs28999113
|
0.925 |
0.160 |
16 |
88809834 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.810 |
1.000 |
8 |
1987 |
2011 |
rs104894506
|
1.000 |
0.160 |
16 |
88810550 |
missense variant |
T/A
|
snv
|
|
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
8 |
1987 |
2011 |
rs104894508
|
1.000 |
0.160 |
16 |
88810141 |
missense variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
8 |
1987 |
2011 |
rs281860265
|
1.000 |
0.160 |
16 |
88810482 |
frameshift variant |
-/TCGG
|
delins
|
4.0E-06
|
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
1992 |
1992 |
rs281860266
|
1.000 |
0.160 |
16 |
88809793 |
missense variant |
C/A
|
snv
|
1.6E-05
|
7.0E-06
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs745594160
|
1.000 |
0.160 |
16 |
88810067 |
splice donor variant |
-/A
|
delins
|
1.1E-04
|
4.9E-05
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs104894507
|
1.000 |
0.160 |
16 |
88810450 |
stop gained |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121912681
|
1.000 |
0.160 |
16 |
88809718 |
inframe deletion |
AAG/-
|
delins
|
|
7.0E-05
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs200392753
|
1.000 |
0.160 |
16 |
88810494 |
missense variant |
C/T
|
snv
|
3.2E-05
|
1.4E-05
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs281860263
|
1.000 |
0.160 |
16 |
88810420 |
splice donor variant |
-/A
|
delins
|
4.1E-06
|
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs28999113
|
0.925 |
0.160 |
16 |
88809834 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
APRT deficiency, Japanese type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs387906584
|
1.000 |
0.160 |
16 |
88809699 |
stop lost |
C/G
|
snv
|
|
7.0E-06
|
Adenine phosphoribosyltransferase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs752977102
|
0.925 |
0.120 |
16 |
88811577 |
missense variant |
G/C
|
snv
|
2.8E-05
|
7.0E-05
|
Kidney Calculi
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs752977102
|
0.925 |
0.120 |
16 |
88811577 |
missense variant |
G/C
|
snv
|
2.8E-05
|
7.0E-05
|
Nephrolithiasis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs752977102
|
0.925 |
0.120 |
16 |
88811577 |
missense variant |
G/C
|
snv
|
2.8E-05
|
7.0E-05
|
Chronic Kidney Diseases
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |