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.
Obsessive-Compulsive Disorder
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
112 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2020 2020
Acute myocardial ischemia
CUI: C0746731
Disease: Acute myocardial ischemia
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Anterior myocardial infarction
CUI: C0340293
Disease: Anterior myocardial infarction
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Diabetic Polyneuropathies
CUI: C0271680
Disease: Diabetic Polyneuropathies
16 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Human papilloma virus infection
CUI: C0343641
Disease: Human papilloma virus infection
42 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2019 2019
Neonatal thrombosis of cerebral venous sinus
CUI: C4302205
Disease: Neonatal thrombosis of cerebral venous sinus
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Pervasive Development Disorder
CUI: C0524528
Disease: Pervasive Development Disorder
49 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
precancerous lesions
CUI: C0940937
Disease: precancerous lesions
19 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Schizophrenia, Childhood
CUI: C0036346
Disease: Schizophrenia, Childhood
20 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2019 2019
Vaso-Occlusive Crisis
CUI: C0750151
Disease: Vaso-Occlusive Crisis
5 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2018 2018
Gastrointestinal mucositis
CUI: C0521585
Disease: Gastrointestinal mucositis
19 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2018 2018
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Deformity
CUI: C0302142
Disease: Deformity
26 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2018 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2018 2018
FRIEDREICH ATAXIA 1
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
24 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2018 2018
Gonorrhea
CUI: C0018081
Disease: Gonorrhea
7 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
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
Intracranial Atherosclerosis
CUI: C0751007
Disease: Intracranial Atherosclerosis
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Overweight or obesity
CUI: C4237343
Disease: Overweight or obesity
17 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Paraparesis
CUI: C0221166
Disease: Paraparesis
5 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018