GLO1, glyoxalase I, 2739

N. diseases: 137; N. variants: 7
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: rs12209477
rs12209477 		6 38702023 intron variant C/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2009 2010
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2009 2010
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2010
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2008 2010
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.020 1.000 2 2011 2014
dbSNP: rs1049346
rs1049346 		0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54
CUI: C0857345
Disease: Late onset epilepsy
Late onset epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1049346
rs1049346 		0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1049346
rs1049346 		0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1130534
rs1130534 		1.000 0.040 6 38682812 synonymous variant T/A snv 0.16 0.18
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17749
rs17749 		1.000 0.040 6 38676020 3 prime UTR variant C/T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2736654
rs2736654 		0.882 0.120 6 38682852 missense variant T/A;G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2736654
rs2736654 		0.882 0.120 6 38682852 missense variant T/A;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2736654
rs2736654 		0.882 0.120 6 38682852 missense variant T/A;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2736654
rs2736654 		0.882 0.120 6 38682852 missense variant T/A;G snv
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2004 2004
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2014 2014
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013