Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66567989
rs66567989
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs66567989
rs66567989
Finding of Mean Corpuscular Hemoglobin
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs2847153
rs2847153
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170

2012

dbSNP: rs11873890
rs11873890
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs11873890
rs11873890
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs11873890
rs11873890
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs11873890
rs11873890
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs2847153
rs2847153
CUI: C0017638
Disease: Glioma
Glioma
0.020 GeneticVariation BEFREE This study evaluated the role of TYMS (rs1059394, C > T, and rs2847153, G > A), RYR3 (rs1044129, G > A), KIAA0423 (rs1053667, T > C), and GOLGA7 (rs11337, G > T) polymorphisms for assessment of glioma risk and prognosis among the Chinese Han population. 31525662

2019

dbSNP: rs2847153
rs2847153
CUI: C0017638
Disease: Glioma
Glioma
0.020 GeneticVariation BEFREE However, no significant difference was found between rs2847153 and glioma risk in any genetic model (<i>P</i>﹥0.05). 31632074

2019

dbSNP: rs2847153
rs2847153
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Conclusively, our data suggest that SNPs rs2847153 in TYMS gene may be a potential biomarker for predicting clinical outcome and personalized treatment in NSCLC patients. 25877757

2015

dbSNP: rs2847149
rs2847149
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.010 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: rs1001761
rs1001761
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.010 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: rs1001761
rs1001761
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 GeneticVariation BEFREE Interactions between SNPs and water As on skin lesion risk were suggestive for three variants: the G allele of MTRR rs1801394 and T allele of FOLR1 rs1540087 were associated with lower odds of skin lesions with lower As (≤50 μg/L), and the T allele of TYMS rs1001761 was associated with higher odds of skin lesions with higher As. 29421402

2018

dbSNP: rs1448674651
rs1448674651
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Low dietary folate intake (P < 0.001), RFC1 G80A (OR: 1.38, 95% CI 1.06-1.81) and MTHFR C677T (OR: 1.74 (1.11-2.73) were independently associated with the breast cancer risk whereas cSHMT C1420T conferred protection (OR: 0.72, 95% CI 0.55-0.94). 21161404

2011

dbSNP: rs1448674651
rs1448674651
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752

2012

dbSNP: rs1448674651
rs1448674651
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1). 25648260

2015

dbSNP: rs1448674651
rs1448674651
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE SLC19A1 80G > A emerged as the predominant polymorphism associated with risk of ALL. 20824655

2011

dbSNP: rs1448674651
rs1448674651
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752

2012

dbSNP: rs1448674651
rs1448674651
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Low dietary folate intake (P < 0.001), RFC1 G80A (OR: 1.38, 95% CI 1.06-1.81) and MTHFR C677T (OR: 1.74 (1.11-2.73) were independently associated with the breast cancer risk whereas cSHMT C1420T conferred protection (OR: 0.72, 95% CI 0.55-0.94). 21161404

2011

dbSNP: rs1448674651
rs1448674651
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility. 19020309

2009

dbSNP: rs1448674651
rs1448674651
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1). 25648260

2015

dbSNP: rs1448674651
rs1448674651
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques. 22838948

2012

dbSNP: rs1448674651
rs1448674651
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility. 19020309

2009

dbSNP: rs1448674651
rs1448674651
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 GeneticVariation BEFREE Gene-gene interactions within one-carbon metabolic pathway were observed in CAD (GCPII 1561 C>T, SHMT 1420 C>T and MTHFR 677 C>T) and PD (cSHMT 1420 C>T, MTRR 66 A>G and RFC1 80 G>A). 25648260

2015

dbSNP: rs1448674651
rs1448674651
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1). 25648260

2015