SHMT1, serine hydroxymethyltransferase 1, 6470

N. diseases: 106; 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: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.030 1.000 3 2002 2012
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs8067462
rs8067462 		17 18360257 intron variant C/A snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2010 2015
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2007 2014
dbSNP: rs372150314
rs372150314 		0.925 0.120 17 18347596 missense variant C/A;T snv 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs9909104
rs9909104 		0.882 0.200 17 18344707 intron variant T/C snv 0.30
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 0.500 2 2005 2011
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2016
dbSNP: rs11868708
rs11868708 		1.000 0.120 17 18341299 non coding transcript exon variant T/A;C;G snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2273027
rs2273027 		1.000 0.120 17 18347213 intron variant C/T snv 0.41
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9909104
rs9909104 		0.882 0.200 17 18344707 intron variant T/C snv 0.30
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs764986276
rs764986276 		0.925 0.080 17 18333172 missense variant C/G;T snv 4.0E-06; 4.4E-05
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2013 2014
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9909104
rs9909104 		0.882 0.200 17 18344707 intron variant T/C snv 0.30
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2013 2015