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: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.710 1.000 22 1994 2014
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 2 1997 2012
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.060 1.000 6 2003 2018
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 1.000 4 2005 2013
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 1.000 3 2005 2013
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.020 1.000 2 2012 2012
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 0.500 2 1998 2013
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2001 2003
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 1.000 2 2006 2010
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2003 2012
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.010 1.000 1 2004 2004
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2014 2014
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 1999 1999
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2007 2007
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		0.010 1.000 1 2001 2001
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2020 2020
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.010 1.000 1 1998 1998
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 1.000 1 2017 2017
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0024530
Disease: Malaria
Malaria 		0.010 1.000 1 2016 2016
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		0.010 1.000 1 2003 2003
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 < 0.001 1 2010 2010
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2000 2000
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2016 2016