rs777919630, CBS

N. diseases: 40
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 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.710 1.000 22 1994 2014
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
24 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 2 1997 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.060 1.000 6 2003 2018
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.040 1.000 4 2005 2013
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.030 1.000 3 2005 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 0.500 2 1998 2013
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2006 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2003 2012
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2001 2003
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2012 2012
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
20 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1 2010 2010
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 1999 1999
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
Fetus affected by placental transfer of anticonvulsant
CUI: C1739111
Disease: Fetus affected by placental transfer of anticonvulsant
2 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1 2000 2000
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2016 2016