Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 < 0.001 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007775
Disease: Cerebral Atherosclerosis
Cerebral Atherosclerosis 		0.010 < 0.001 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 < 0.001 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1527411
Disease: Thrombosis of retinal vein
Thrombosis of retinal vein 		0.010 < 0.001 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		0.010 < 0.001 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		0.010 < 0.001 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.010 < 0.001 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0349458
Disease: Cervical intraepithelial neoplasia grade 1
Cervical intraepithelial neoplasia grade 1 		0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0729353
Disease: Subfertility
Subfertility 		0.010 < 0.001 1 2003 2003
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 < 0.001 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		0.010 < 0.001 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		0.010 < 0.001 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism 		0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 < 0.001 1 2020 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.010 < 0.001 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis 		0.010 < 0.001 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		0.010 < 0.001 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.010 < 0.001 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 < 0.001 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1536220
Disease: ST segment elevation myocardial infarction
ST segment elevation myocardial infarction 		0.010 < 0.001 1 2010 2010