rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2018 2018
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2012 2016
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
69 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
72 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Liver and Intrahepatic Biliary Tract Carcinoma
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
73 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
74 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1 2018 2018
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
88 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011