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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2001 2017
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: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2004 2015
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2007 2014
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 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: 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: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma 		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: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs372150314
rs372150314 		0.925 0.120 17 18347596 missense variant C/A;T snv 4.0E-06
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2008 2008
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: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
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: 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: 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: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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: 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