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: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.040 1.000 4 1999 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.040 1.000 4 2008 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 1.000 3 2007 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.030 1.000 3 2007 2008
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.030 1.000 3 2005 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.030 1.000 3 2003 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.030 1.000 3 2005 2010
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.030 1.000 3 2005 2010
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 1.000 3 2009 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 1.000 3 2012 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 1.000 3 2004 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2003 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 1.000 2 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.020 1.000 2 2003 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.020 1.000 2 2007 2009
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.020 1.000 2 2003 2009
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.020 1.000 2 2006 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2010 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 1.000 2 2000 2003
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.020 1.000 2 2005 2010
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.020 1.000 2 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0302142
Disease: Deformity
Deformity 		0.020 1.000 2 2017 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2013 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.020 1.000 2 2012 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 1.000 2 2007 2012