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: 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
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
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: 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: 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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		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: C0023055
Disease: Laryngeal neoplasm
Laryngeal neoplasm 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 < 0.001 1 2019 2019
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: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		Respiratory Tract Diseases; Otorhinolaryngologic Diseases 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
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: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		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: C0023418
Disease: leukemia
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010