rs1194897557, MTHFR

N. diseases: 7
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.
Cystathionine beta-Synthase Deficiency Disease
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
118 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 0.500 2 1996 2000
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 1.000 2 1999 2000
Atherothrombosis
CUI: C1963943
Disease: Atherothrombosis
15 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2002 2002
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1 1996 1996
Peripheral Arterial Diseases
CUI: C1704436
Disease: Peripheral Arterial Diseases
128 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2000 2000