APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28999113
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
dbSNP: rs104894506
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
dbSNP: rs104894508
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
dbSNP: rs281860265
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
dbSNP: rs281860266
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
dbSNP: rs745594160
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
dbSNP: rs104894507
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
dbSNP: rs121912681
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
dbSNP: rs200392753
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
dbSNP: rs281860263
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
dbSNP: rs28999113
rs28999113
0.925 0.160 16 88809834 missense variant A/G snv 4.0E-06
CUI: C0268121
Disease: APRT deficiency, Japanese type
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
dbSNP: rs387906584
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
dbSNP: rs752977102
rs752977102
0.925 0.120 16 88811577 missense variant G/C snv 2.8E-05 7.0E-05
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs752977102
rs752977102
0.925 0.120 16 88811577 missense variant G/C snv 2.8E-05 7.0E-05
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs752977102
rs752977102
0.925 0.120 16 88811577 missense variant G/C snv 2.8E-05 7.0E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018