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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 < 0.001 2 2011 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		0.020 < 0.001 2 2014 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.020 < 0.001 2 2011 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 < 0.001 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 < 0.001 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 < 0.001 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 < 0.001 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.010 < 0.001 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 < 0.001 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0.010 < 0.001 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 < 0.001 1 2018 2018