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: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.030 0.667 3 2008 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.020 1.000 2 2011 2013
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2015 2017
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.020 1.000 2 2011 2017
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.020 1.000 2 2014 2016
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.020 1.000 2 2008 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.020 1.000 2 2012 2016
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.020 1.000 2 2015 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.020 1.000 2 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2014 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.020 1.000 2 2011 2017
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2014 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		0.020 1.000 2 2016 2018
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.020 1.000 2 2014 2018
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 0.500 2 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 0.500 2 2012 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.020 1.000 2 2015 2016
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 0.500 2 2013 2015
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.020 1.000 2 1997 2012
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2002 2006
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 1.000 2 2013 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.020 1.000 2 2015 2017
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2002 2006