rs1217691063, MTHFR

N. diseases: 614
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.
Cervical dysplasia
CUI: C0007868
Disease: Cervical dysplasia
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2001 2003
Diagnosis, Psychiatric
CUI: C0376338
Disease: Diagnosis, Psychiatric
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2011 2012
Advanced Lung Non-Squamous Non-Small Cell Carcinoma
CUI: C4688308
Disease: Advanced Lung Non-Squamous Non-Small Cell Carcinoma
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
Arakawa syndrome 2
CUI: C0268611
Disease: Arakawa syndrome 2
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
Cerebral venous sinus thrombosis
CUI: C0338573
Disease: Cerebral venous sinus thrombosis
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Cervical intraepithelial neoplasia grade 1
CUI: C0349458
Disease: Cervical intraepithelial neoplasia grade 1
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2013 2013
Cervical meningomyelocele
CUI: C3536740
Disease: Cervical meningomyelocele
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
Cholangiolocellular Carcinoma
CUI: C1516490
Disease: Cholangiolocellular Carcinoma
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
Complex congenital heart disease
CUI: C0744669
Disease: Complex congenital heart disease
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Congenital thrombophilia
CUI: C3495893
Disease: Congenital thrombophilia
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
Double inlet left ventricle
CUI: C0344622
Disease: Double inlet left ventricle
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
Dry Eye Syndromes
CUI: C0013238
Disease: Dry Eye Syndromes
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Dryness of eye
CUI: C0314719
Disease: Dryness of eye
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Headache in children
CUI: C3825293
Disease: Headache in children
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Homozygous methylenetetrahydrofolate reductase mutation
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Infarction of spinal cord
CUI: C2314994
Disease: Infarction of spinal cord
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
Intestinal infarction
CUI: C0241950
Disease: Intestinal infarction
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
Lateral Sinus Thrombosis
CUI: C0270639
Disease: Lateral Sinus Thrombosis
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
Lymphoid neoplasm
CUI: C0598798
Disease: Lymphoid neoplasm
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
malignant neoplasm of large intestine stage IV
CUI: C2217040
Disease: malignant neoplasm of large intestine stage IV
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
Multicystic Encephalomalacia
CUI: C0393992
Disease: Multicystic Encephalomalacia
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
Mycoplasma pneumoniae Infection
CUI: C3824874
Disease: Mycoplasma pneumoniae Infection
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
Occlusive vascular disease
CUI: C0750145
Disease: Occlusive vascular disease
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
Periprocedural myocardial infarction
CUI: C4324584
Disease: Periprocedural myocardial infarction
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
Posterior cerebral artery occlusion
CUI: C0856862
Disease: Posterior cerebral artery occlusion
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009