PRODH, proline dehydrogenase 1, 5625

N. diseases: 85; N. variants: 17
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: rs1807467
rs1807467 		1.000 0.080 22 18918380 missense variant C/A snv 9.4E-04 1.1E-03
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs3970555
rs3970555 		1.000 22 18919485 missense variant G/A snv 1.9E-03 1.5E-03
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder) 		0.700 0
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 4 2002 2018
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder) 		0.700 1.000 2 2002 2005
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2002 2005
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2904551
rs2904551 		0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs450046
rs450046 		0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs450046
rs450046 		0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs450046
rs450046 		0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder) 		0.700 0
dbSNP: rs450046
rs450046 		0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2870984
rs2870984 		0.925 0.080 22 18918346 missense variant G/A snv 4.6E-03 3.3E-03
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder) 		0.700 0
dbSNP: rs2870984
rs2870984 		0.925 0.080 22 18918346 missense variant G/A snv 4.6E-03 3.3E-03
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs139903009
rs139903009 		1.000 0.080 22 18916953 missense variant T/C snv 2.7E-03 1.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2870983
rs2870983 		0.882 0.120 22 18918329 missense variant C/T snv 4.9E-02; 4.0E-06 5.5E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs2870983
rs2870983 		0.882 0.120 22 18918329 missense variant C/T snv 4.9E-02; 4.0E-06 5.5E-02
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2870983
rs2870983 		0.882 0.120 22 18918329 missense variant C/T snv 4.9E-02; 4.0E-06 5.5E-02
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder) 		0.700 0