Source: BEFREE

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: 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: 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: 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: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 < 0.001 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0524702
Disease: Pulmonary Thromboembolisms
Pulmonary Thromboembolisms 		0.010 < 0.001 1 2002 2002
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: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		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: 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: C1536220
Disease: ST segment elevation myocardial infarction
ST segment elevation myocardial infarction 		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: 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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: 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: 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: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		0.010 < 0.001 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1261473
Disease: Sarcoma
Sarcoma 		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: 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: 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: C0043144
Disease: Wheezing
Wheezing 		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: 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: 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: C1135868
Disease: Gestational Trophoblastic Neoplasms
Gestational Trophoblastic Neoplasms 		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: 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: 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: 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: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 < 0.001 1 2009 2009