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.
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019
early pregnancy
CUI: C0747845
Disease: early pregnancy
8 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 1998 2018
Spina Bifida Cystica
CUI: C0037917
Disease: Spina Bifida Cystica
5 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2004
Psychotic Disorders
CUI: C0033975
Disease: Psychotic Disorders
179 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 1998 2006
Cystathionine beta-Synthase Deficiency Disease
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
118 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.829 70 1999 2018
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.839 56 1999 2018
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 52 1999 2019
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.841 44 1999 2019
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 34 1999 2019
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.879 33 1999 2019
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 24 1999 2018
Methylenetetrahydrofolate reductase polymorphism
CUI: C2721734
Disease: Methylenetetrahydrofolate reductase polymorphism
7 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.864 22 1999 2018
Folic Acid Deficiency
CUI: C0016412
Disease: Folic Acid Deficiency
8 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.941 17 1999 2017
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 1999 2019
Methylenetetrahydrofolate reductase gene mutation
CUI: C3805092
Disease: Methylenetetrahydrofolate reductase gene mutation
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 1999 2009
Miscarriage
CUI: C4552766
Disease: Miscarriage
56 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 13 1999 2019
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 1999 2014
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 1999 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 1999 2018
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 0.667 6 1999 2012