rs397507444, MTHFR

N. diseases: 306
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.
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
79 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
72 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
123 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2014 2014
Cervical Intraepithelial Neoplasia
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
29 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
Cervical intraepithelial neoplasia grade 2
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Cilioretinal artery (disorder)
CUI: C0423461
Disease: Cilioretinal artery (disorder)
1 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2009 2009
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cognitive changes
CUI: C1392786
Disease: Cognitive changes
15 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
Colitis, Ischemic
CUI: C0162529
Disease: Colitis, Ischemic
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
13 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Dementia
CUI: C0497327
Disease: Dementia
176 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Depressed mood
CUI: C0344315
Disease: Depressed mood
269 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
12 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019