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.
Acrocyanosis
CUI: C0221347
Disease: Acrocyanosis
5 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2015 2015
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
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
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
adult chronic myelogenous leukemia
CUI: C4733577
Disease: adult chronic myelogenous leukemia
3 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
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
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
30 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2017 2017
AIDS related complex
CUI: C0001857
Disease: AIDS related complex
43 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2015 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2012 2017
Anterior encephalocele
CUI: C4024948
Disease: Anterior encephalocele
5 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
Attention deficit hyperactivity disorder
420 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2014 2018
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2008 2008
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
220 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.700 1.000 1 2011 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.080 0.875 8 2009 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2010 2012
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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
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
Childhood Acute Lymphoblastic Leukemia
261 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
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
Cognitive changes
CUI: C1392786
Disease: Cognitive changes
15 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.060 0.833 6 2008 2019
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
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
13 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
Conventional (Clear Cell) Renal Cell Carcinoma
222 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1 2019 2019