Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs506500
rs506500
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0455308
Disease:
Serum selenium measurement
0.800 GeneticVariation GWASDB Genome-wide association study identifies loci affecting blood copper, selenium and zinc. 23720494 2013
dbSNP: rs506500
rs506500
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0455308
Disease:
Serum selenium measurement
0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci affecting blood copper, selenium and zinc. 23720494 2013
dbSNP: rs558133
rs558133
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0373721
Disease:
Selenium measurement
A 0.700 GeneticVariation GWASCAT Genome-wide association study of selenium concentrations. 25343990 2015
dbSNP: rs567754
rs567754
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0373721
Disease:
Selenium measurement
T 0.700 GeneticVariation GWASCAT Genome-wide association study of selenium concentrations. 25343990 2015
dbSNP: rs7700970
rs7700970
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0373721
Disease:
Selenium measurement
T 0.700 GeneticVariation GWASCAT Genome-wide association study of selenium concentrations. 25343990 2015
dbSNP: rs7700970
rs7700970
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0455308
Disease:
Serum selenium measurement
T 0.700 GeneticVariation GWASDB Genome-wide association study identifies loci affecting blood copper, selenium and zinc. 23720494 2013
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.030 GeneticVariation BEFREE Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia. 31111486 2019
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.030 GeneticVariation BEFREE BHMT and BHMT_1 DNA methylation proportionally mediated the effects of rs3733890 SNPs on the efficacy of folate therapy for HHcy. 31826386 2019
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.030 GeneticVariation BEFREE Probands with rs1801394 "GG" genotype and BHMT rs3733890 "G" allele showed association with hyperhomocysteinemia. 29407547 2018
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0027794
Disease:
Neural Tube Defects
0.030 GeneticVariation BEFREE The BHMT gene rs3733890, RFC1 gene rs1051266 and MTR gene rs1805087 were associated with the occurrence of NTDs in Han population of Northern China. 28770393 2018
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0027794
Disease:
Neural Tube Defects
0.030 GeneticVariation BEFREE MTHM 501A>G only in case of GDM, and BHMT 716G>A only in case of no folate supplementation contribute to the etiology of NTDs. 24326202 2014
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0027794
Disease:
Neural Tube Defects
0.030 GeneticVariation BEFREE Since genetic deficiencies in folate-dependent homocysteine metabolism have been identified in NTD families, we investigated a common variant in betaine-homocysteine methyltransferase (BHMT), 742G-->A (R239Q), as a genetic modifier of NTD risk. 12749058 2003
dbSNP: rs749710704
rs749710704
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.020 GeneticVariation BEFREE We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk. 22051736 2012
dbSNP: rs749710704
rs749710704
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.020 GeneticVariation BEFREE MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk. 21630102 2012
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE The betaine-homocysteine methyltransferase gene (BHMT) rs3733890 polymorphism was associated with reduced breast cancer-specific mortality (hazard ratio, 0.64; 95% confidence interval, 0.42-0.97). 19635752 2009
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The betaine-homocysteine methyltransferase gene (BHMT) rs3733890 polymorphism was associated with reduced breast cancer-specific mortality (hazard ratio, 0.64; 95% confidence interval, 0.42-0.97). 19635752 2009
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0080178
Disease:
Spina Bifida
0.020 GeneticVariation BEFREE With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3). 19493349 2009
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE The BHMT rs3733890 polymorphism was also examined but was found not to be associated with breast cancer risk. 18230680 2008
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The BHMT rs3733890 polymorphism was also examined but was found not to be associated with breast cancer risk. 18230680 2008
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0080178
Disease:
Spina Bifida
0.020 GeneticVariation BEFREE The results of this study indicated that individuals homozygous for the single nucleotide polymorphism R239Q in BHMT did not have elevated risks for spina bifida. 15887275 2005
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE MTHFR rs1801131, MTR rs1805087 and BHMT rs3733890 also showed association with ADHD index. 29407547 2018
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE BHMT (rs3733890) polymorphism showed no association with ALL. 28582843 2017
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS. 27677362 2017
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0013080
Disease:
Down Syndrome
0.010 GeneticVariation BEFREE In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS. 27677362 2017
dbSNP: rs3733890
rs3733890
Entrez Id: 635;29958
Gene Symbol: BHMT;DMGDH
BHMT;DMGDH
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE BHMT (rs3733890) polymorphism showed no association with ALL. 28582843 2017