PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
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: rs104894451
rs104894451 		1.000 0.120 14 20476432 missense variant G/A;C snv 4.8E-05; 8.0E-05
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 5 1987 2011
dbSNP: rs104894450
rs104894450 		1.000 0.120 14 20474870 missense variant A/G snv 7.0E-06
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 3 1987 1996
dbSNP: rs104894452
rs104894452 		1.000 0.120 14 20475175 missense variant A/G;T snv
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 3 1987 1996
dbSNP: rs104894453
rs104894453 		1.000 0.120 14 20474555 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 3 1987 1996
dbSNP: rs104894454
rs104894454 		1.000 0.120 14 20475120 missense variant G/C;T snv 8.0E-06
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 3 1987 1996
dbSNP: rs1760940
rs1760940 		14 20470092 intron variant A/C snv 0.22
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 2 2012 2019
dbSNP: rs1049564
rs1049564 		0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2015 2017
dbSNP: rs1026474882
rs1026474882 		1.000 0.120 14 20474755 non coding transcript exon variant G/A;C snv 3.6E-05; 4.0E-05; 2.0E-05; 4.0E-06
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 2 1997 2014
dbSNP: rs1049564
rs1049564 		0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C2825875
Disease: Interferon Alpha Measurement
Interferon Alpha Measurement 		0.700 1.000 1 2015 2015
dbSNP: rs104894455
rs104894455 		1.000 0.120 14 20472366 stop gained C/T snv 1.2E-05
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs104894460
rs104894460 		1.000 0.120 14 20472468 stop gained C/T snv 4.4E-05 3.5E-05
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1566525400
rs1566525400 		1.000 0.120 14 20474576 splice donor variant G/A snv
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1049564
rs1049564 		0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1049564
rs1049564 		0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1049564
rs1049564 		0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1049564
rs1049564 		0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs138702206
rs138702206 		1.000 0.120 14 20475249 missense variant G/A snv 1.5E-03 5.9E-03
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs3790064
rs3790064 		14 20472910 non coding transcript exon variant A/G;T snv
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018