rs3733890, BHMT;DMGDH

N. diseases: 16
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.
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 1.000 3 2018 2019
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 0.667 3 2003 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.020 0.500 2 2008 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.020 0.500 2 2008 2009
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.020 1.000 2 2005 2009
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1 2017 2017
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
213 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2007 2007
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1 2017 2017
Attention deficit hyperactivity disorder
420 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2018 2018
Childhood Acute Lymphoblastic Leukemia
261 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1 2017 2017
Choline Deficiency
CUI: C0008412
Disease: Choline Deficiency
4 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1 2006 2006
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2017 2017
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
13 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2012 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2003 2003
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2017 2017
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2011 2011