rs5742905, CBS

N. diseases: 22
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 0.701 0.360 21 43063074 missense variant A/G snv 0.850 0.974 39 1984 2019
Homocystinuria
CUI: C0019880
Disease: Homocystinuria
27 0.701 0.360 21 43063074 missense variant A/G snv 0.760 0.933 15 1995 2019
Homocystinuria, Pyridoxine-Responsive
CUI: C3502110
Disease: Homocystinuria, Pyridoxine-Responsive
11 0.701 0.360 21 43063074 missense variant A/G snv 0.720 1.000 2 1995 2007
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
24 0.701 0.360 21 43063074 missense variant A/G snv 0.700 1.000 18 1991 2014
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.701 0.360 21 43063074 missense variant A/G snv 0.030 1.000 3 1999 2012
Endothelial dysfunction
CUI: C0856169
Disease: Endothelial dysfunction
25 0.701 0.360 21 43063074 missense variant A/G snv 0.020 1.000 2 2012 2019
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
163 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
Atherothrombosis
CUI: C1963943
Disease: Atherothrombosis
15 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2002 2002
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2017 2017
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2014 2014
Bone Demineralization, Pathologic
CUI: C0242699
Disease: Bone Demineralization, Pathologic
3 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 1995 1995
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1 1996 1996
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2012 2012
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2013 2013
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2013 2013
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2017 2017
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2018 2018
Peripheral Arterial Diseases
CUI: C1704436
Disease: Peripheral Arterial Diseases
128 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2011 2011
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2000 2000
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019