rs1801133, MTHFR

N. diseases: 174
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Activated Protein C Resistance
CUI: C0600433
Disease: Activated Protein C Resistance
30 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 1997 1997
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 1997 1997
Cervical Intraepithelial Neoplasia
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
29 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2000 2000
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2002 2002
Favism
CUI: C0015702
Disease: Favism
14 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2002 2002
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2002 2006
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2002 2006
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2006 2006
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
182 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2007 2007
Chronic small plaque psoriasis
CUI: C0406317
Disease: Chronic small plaque psoriasis
3 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2009 2009
VITAMIN B12 MEASUREMENT
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
22 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.700 1.000 1 2009 2009
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2010 2010
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2010 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Cluster Headache
CUI: C0009088
Disease: Cluster Headache
13 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1 2011 2011
Cognitive changes
CUI: C1392786
Disease: Cognitive changes
15 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 1997 2012