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.
Vascular cognitive impairment
CUI: C3805043
Disease: Vascular cognitive impairment
1 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2013 2016
stage, colon cancer
CUI: C0280252
Disease: stage, colon cancer
2 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
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
Intestinal Perforation
CUI: C0021845
Disease: Intestinal Perforation
3 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
Methylenetetrahydrofolate reductase deficiency
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
4 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
Symphysis Pubis Dysfunction
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
4 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
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
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
Gestational Trophoblastic Neoplasms
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
7 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
Folic acid measurement
CUI: C0523631
Disease: Folic acid measurement
8 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.700 1.000 2 2018 2018
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
Recurrent depressive disorder
CUI: C0349218
Disease: Recurrent depressive disorder
9 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
Renal sclerosis with hypertension
CUI: C0264657
Disease: Renal sclerosis with hypertension
9 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
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
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
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
Rumination Disorders
CUI: C0154575
Disease: Rumination Disorders
13 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2016 2016
Favism
CUI: C0015702
Disease: Favism
14 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2002 2002
Cognitive changes
CUI: C1392786
Disease: Cognitive changes
15 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Retinopathy of Prematurity
CUI: C0035344
Disease: Retinopathy of Prematurity
16 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
ST segment elevation myocardial infarction
CUI: C1536220
Disease: ST segment elevation myocardial infarction
16 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
Hallucinations
CUI: C0018524
Disease: Hallucinations
18 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
Transposition of Great Vessels
CUI: C0040761
Disease: Transposition of Great Vessels
18 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
Gastrointestinal mucositis
CUI: C0521585
Disease: Gastrointestinal mucositis
19 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2016 2018
Lichen Planus, Oral
CUI: C0206139
Disease: Lichen Planus, Oral
20 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016