PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
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: rs121907987
rs121907987 		1.000 0.240 1 119743906 missense variant G/A snv 1.5E-04 5.6E-05
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 3 2000 2009
dbSNP: rs121907988
rs121907988 		1.000 0.240 1 119742870 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2000 2009
dbSNP: rs267606947
rs267606947 		0.925 0.320 1 119735432 missense variant G/A snv
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2000 2009
dbSNP: rs267606948
rs267606948 		0.925 0.320 1 119741817 missense variant G/A;C snv 1.2E-05
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2000 2009
dbSNP: rs587777770
rs587777770 		1.000 0.240 1 119727010 missense variant G/A snv 4.0E-06
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs201553627
rs201553627 		1.000 0.240 1 119741805 missense variant G/A;T snv 8.0E-06; 4.0E-05
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 2 2000 2009
dbSNP: rs267606949
rs267606949 		1.000 0.240 1 119726897 missense variant C/A;G;T snv 4.0E-06; 3.6E-05; 2.0E-05
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 2 2000 2009
dbSNP: rs10494229
rs10494229 		1.000 0.040 1 119686494 intron variant A/G snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11577560
rs11577560 		1.000 0.040 1 119687242 intron variant T/C snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11804606
rs11804606 		1.000 0.040 1 119704280 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12023426
rs12023426 		1.000 0.040 1 119687096 intron variant A/G snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12129705
rs12129705 		1 119648421 5 prime UTR variant A/T snv 8.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12144094
rs12144094 		1 119722200 intron variant C/G snv 0.10
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
dbSNP: rs267606948
rs267606948 		0.925 0.320 1 119741817 missense variant G/A;C snv 1.2E-05
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs477992
rs477992 		1 119714953 intron variant A/G snv 0.69
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs477992
rs477992 		1 119714953 intron variant A/G snv 0.69
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs477992
rs477992 		1 119714953 intron variant A/G snv 0.69
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs477992
rs477992 		1 119714953 intron variant A/G snv 0.69
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2015 2015
dbSNP: rs478093
rs478093 		1.000 0.040 1 119712503 5 prime UTR variant A/G snv 0.73
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs478093
rs478093 		1.000 0.040 1 119712503 5 prime UTR variant A/G snv 0.73
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs478093
rs478093 		1.000 0.040 1 119712503 5 prime UTR variant A/G snv 0.73
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs523395
rs523395 		1 119729854 intron variant T/C snv 0.63
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs541763
rs541763 		1.000 0.040 1 119702784 intron variant A/G snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs561931
rs561931 		1 119711883 5 prime UTR variant A/G;T snv
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs587777483
rs587777483 		1.000 0.240 1 119727080 missense variant G/A snv
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014