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: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 1997 1997
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.010 1.000 1 1997 1997
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.010 1.000 1 2000 2000
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.010 1.000 1 2002 2002
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0015702
Disease: Favism
Favism 		0.010 1.000 1 2002 2002
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2006 2006
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2007 2007
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis 		0.010 1.000 1 2008 2008
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2008 2008
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		0.700 1.000 1 2009 2009
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2009 2009
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2010 2010
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0009088
Disease: Cluster Headache
Cluster Headache 		0.010 < 0.001 1 2011 2011
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