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: rs7207306
rs7207306 		17 18344048 intron variant C/T snv 0.30
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 0.500 4 2014 2018
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 0.500 4 2014 2018
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: 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: 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: 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2013 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: 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2018
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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2015 2016
dbSNP: rs1027720509
rs1027720509 		17 18340813 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1027720509
rs1027720509 		17 18340813 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
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: rs1331681068
rs1331681068 		17 18333280 missense variant C/T snv 8.1E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1331681068
rs1331681068 		17 18333280 missense variant C/T snv 8.1E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1335035506
rs1335035506 		1.000 0.120 17 18340207 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs148701087
rs148701087 		1.000 0.120 17 18340762 missense variant G/A snv 6.4E-04 8.8E-04
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015