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: 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: rs137852934
rs137852934 		1.000 0.080 22 18922389 missense variant A/T snv 3.6E-03
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2002 2007
dbSNP: rs2904552
rs2904552 		0.925 0.120 22 18918451 missense variant C/T snv 7.2E-02
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2002 2007
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 2 2015 2019
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: rs117935223
rs117935223 		1.000 0.080 22 18923820 non coding transcript exon variant C/A snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs117935223
rs117935223 		1.000 0.080 22 18923820 non coding transcript exon variant C/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2238731
rs2238731 		0.882 0.120 22 18918464 missense variant C/T snv 3.8E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0523852
Disease: Proline measurement
Proline measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0428209
Disease: Leucine measurement
Leucine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0523920
Disease: Threonine measurement
Threonine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0523459
Disease: Alanine measurement
Alanine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0337446
Disease: Tyrosine measurement
Tyrosine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238732
rs2238732 		22 18927834 intron variant C/G;T snv
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		0.700 1.000 1 2019 2019
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: 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: rs2904552
rs2904552 		0.925 0.120 22 18918451 missense variant C/T snv 7.2E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2904552
rs2904552 		0.925 0.120 22 18918451 missense variant C/T snv 7.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs372055
rs372055 		1.000 0.040 22 18913237 synonymous variant G/A snv 0.78
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs372187772
rs372187772 		1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015