ADK, adenosine kinase, 132

N. diseases: 102; 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: rs397514452
rs397514452 		1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.800 1.000 1 2011 2011
dbSNP: rs397514453
rs397514453 		1.000 10 74525404 missense variant A/C snv
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.800 1.000 1 2011 2011
dbSNP: rs397514454
rs397514454 		1.000 10 74200787 missense variant G/A snv
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.800 1.000 1 2011 2011
dbSNP: rs10824134
rs10824134 		10 74261866 intron variant T/C snv 0.48
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10824211
rs10824211 		10 74603349 intron variant C/T snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12098284
rs12098284 		10 74287706 intron variant C/T snv 0.16
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs17747401
rs17747401 		1.000 0.120 10 74640406 intron variant C/T snv 0.27
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs34868542
rs34868542 		10 74226399 intron variant C/T snv 0.43
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7079515
rs7079515 		0.925 0.040 10 74272653 intron variant A/C snv 4.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7079515
rs7079515 		0.925 0.040 10 74272653 intron variant A/C snv 4.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs397514452
rs397514452 		1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		0.700 0
dbSNP: rs397514452
rs397514452 		1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		0.700 0
dbSNP: rs397514452
rs397514452 		1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs397514452
rs397514452 		1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.700 0
dbSNP: rs10824095
rs10824095 		0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10824095
rs10824095 		0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11001109
rs11001109 		10 74683339 intron variant A/G snv 0.68
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1417529866
rs1417529866 		1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1417529866
rs1417529866 		1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
Hepatic methionine adenosyltransferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019