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.
Anemia, Megaloblastic
CUI: C0002888
Disease: Anemia, Megaloblastic
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
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
Methylcobalamin Deficiency, CblG Type
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
9 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
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
Transient Cerebral Ischemia
CUI: C0917805
Disease: Transient Cerebral Ischemia
9 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 1999 1999
Transient Ischemic Attack
CUI: C0007787
Disease: Transient Ischemic Attack
16 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 1999 1999
Sicca Syndrome
CUI: C0086981
Disease: Sicca Syndrome
4 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Stage III Colon Cancer
CUI: C0278480
Disease: Stage III Colon Cancer
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Stage III Colon Cancer AJCC v7
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Stage III Colon Cancer AJCC v8
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Sweet Syndrome
CUI: C0085077
Disease: Sweet Syndrome
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
synovial sarcoma
CUI: C0039101
Disease: synovial sarcoma
4 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Vascular occlusion
CUI: C1096458
Disease: Vascular occlusion
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Fetus affected by placental transfer of anticonvulsant
CUI: C1739111
Disease: Fetus affected by placental transfer of anticonvulsant
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 1999 2000
Hypoplasminogenemia
CUI: C0398621
Disease: Hypoplasminogenemia
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
44 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
46 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
44 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
9 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Peripheral arterial occlusive disease
CUI: C1306889
Disease: Peripheral arterial occlusive disease
3 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Proliferative retinopathy
CUI: C0339467
Disease: Proliferative retinopathy
7 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000