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.
Orofacial cleft
CUI: C3266076
Disease: Orofacial cleft
2 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
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
Primary central nervous system lymphoma
CUI: C0280803
Disease: Primary central nervous system lymphoma
4 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
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
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
Gestational Trophoblastic Neoplasms
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
7 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
Myeloid Leukemia
CUI: C0023470
Disease: Myeloid Leukemia
7 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
Renal sclerosis with hypertension
CUI: C0264657
Disease: Renal sclerosis with hypertension
9 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
OTOFACIOCERVICAL SYNDROME 1
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
10 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
OROFACIAL CLEFT 1
CUI: C1861537
Disease: OROFACIAL CLEFT 1
11 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1 2018 2018
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
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
Retinopathy of Prematurity
CUI: C0035344
Disease: Retinopathy of Prematurity
16 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
FRIEDREICH ATAXIA 1
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
24 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1 2018 2018
Ovarian Hyperstimulation Syndrome
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
24 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
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
Meningioma, benign, no ICD-O subtype
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
30 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2017 2017
Dementia, Vascular
CUI: C0011269
Disease: Dementia, Vascular
32 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
Polyp of large intestine
CUI: C0949059
Disease: Polyp of large intestine
32 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
Meniere Disease
CUI: C0025281
Disease: Meniere Disease
36 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2013 2013
Eclampsia
CUI: C0013537
Disease: Eclampsia
38 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
Meningioma
CUI: C0025286
Disease: Meningioma
43 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
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019