rs1801133, MTHFR

N. diseases: 174
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.
RDW - Red blood cell distribution width result
988 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.700 1.000 1 2019 2019
Red cell distribution width determination
988 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.700 1.000 1 2019 2019
VITAMIN B12 MEASUREMENT
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
22 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.700 1.000 1 2009 2009
Acrocyanosis
CUI: C0221347
Disease: Acrocyanosis
5 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
Activated Protein C Resistance
CUI: C0600433
Disease: Activated Protein C Resistance
30 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 1997 1997
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
AIDS related complex
CUI: C0001857
Disease: AIDS related complex
43 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
Analgesic Overuse Headache
CUI: C0522254
Disease: Analgesic Overuse Headache
9 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2013 2013
Anemia
CUI: C0002871
Disease: Anemia
94 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2002 2002
Anencephaly
CUI: C0002902
Disease: Anencephaly
10 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
Anterior encephalocele
CUI: C4024948
Disease: Anterior encephalocele
5 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
84 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Bipolar I disorder
CUI: C0853193
Disease: Bipolar I disorder
46 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 1997 1997
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
Cervical Intraepithelial Neoplasia
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
29 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2000 2000
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
Chronic small plaque psoriasis
CUI: C0406317
Disease: Chronic small plaque psoriasis
3 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
Cleft Lip with or without Cleft Palate
50 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
Cluster Headache
CUI: C0009088
Disease: Cluster Headache
13 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2011 2011