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.
Oral cleft
CUI: C4021813
Disease: Oral cleft
28 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2020 2020
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
Ovarian Hyperstimulation Syndrome
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
24 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
Polyp of large intestine
CUI: C0949059
Disease: Polyp of large intestine
32 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
RDW - Red blood cell distribution width result
CUI: C1304746
Disease: 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
CUI: C0427460
Disease: 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
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 0.500 4 2018 2019
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
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
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
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
74 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2018 2018
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2018 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2018 2018
FRIEDREICH ATAXIA 1
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
24 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2018 2018
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
519 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
169 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Juvenile arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Obesity
CUI: C0028754
Disease: Obesity
1111 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
363 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
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