Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.060 0.833 6 2005 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.060 1.000 6 2007 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.050 0.600 5 2013 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.050 1.000 5 2003 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.050 1.000 5 2011 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.050 1.000 5 2008 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 0.800 5 2006 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.050 1.000 5 1999 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		0.050 0.800 5 2012 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.050 1.000 5 2004 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		0.050 1.000 5 2008 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.050 1.000 5 2011 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.050 1.000 5 2009 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.050 0.800 5 2003 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 0.800 5 2006 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.050 0.600 5 2005 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.050 1.000 5 2012 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.050 0.600 5 2005 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.040 0.500 4 2007 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.040 1.000 4 2004 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.040 0.500 4 2008 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.040 1.000 4 2003 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.040 1.000 4 2004 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		0.040 1.000 4 2007 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.040 0.250 4 2010 2015