chr21:46918115:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:46,918,115-46,983,029 |
| hg38 | chr21:45,498,201-45,563,115 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | intracranial aneurysm | NA | BeFree | Detail | |
| <0.001 | cerebral infarction | We selected three known RFC-1 polymorphisms (-43C>T, 80A>G, 696T>C) and investig... | BeFree | 25659099 | Detail |
| 0.002 | brain ischemia | NA | GAD | Detail | |
| 0.125 | cleft lip | NA | BeFree,CTD_human,GAD | Detail | |
| 0.125 | cleft palate | NA | CTD_human,GAD | Detail | |
| 0.002 | ulcerative colitis | NA | GAD | Detail | |
| 0.120 | Colonic Neoplasms | NA | CTD_human | Detail | |
| 0.001 | colorectal carcinoma | In conclusion, this is the first study to simultaneously evaluate both DNA methy... | BeFree | 25697897 | Detail |
| 0.123 | Colorectal Neoplasms | NA | CTD_human,LHGDN | Detail | |
| 0.003 | Coronary heart disease | NA | BeFree,GAD | Detail | |
| 0.002 | Crohn Disease | NA | GAD | Detail | |
| 0.135 | Down syndrome | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.002 | drug allergy | NA | GAD | Detail | |
| 0.003 | Folic Acid Deficiency | NA | BeFree,GAD | Detail | |
| 0.003 | congenital heart defects | NA | BeFree,GAD | Detail | |
| 0.002 | Heart Septal Defects | NA | GAD | Detail | |
| 0.002 | Hyperparathyroidism, Secondary | NA | GAD | Detail | |
| <0.001 | Hypertensive disease | NA | BeFree | Detail | |
| 0.002 | Female infertility | NA | GAD | Detail | |
| 0.002 | Insulin resistance | NA | GAD | Detail | |
| 0.005 | leukemia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Acute lymphocytic leukemia | Effects of a microRNA binding site polymorphism in SLC19A1 on methotrexate conce... | BeFree | 24927955 | Detail |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.005 | Lung Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.006 | lymphoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.005 | Lymphoma, Non-Hodgkin | NA | BeFree,GAD | Detail | |
| 0.003 | Malignant neoplasm of stomach | NA | BeFree,GAD | Detail | |
| 0.003 | Meningomyelocele | NA | BeFree,GAD | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | nephroblastoma | RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with ... | BeFree | 25536437 | Detail |
| 0.120 | nervous system disorder | NA | CTD_human | Detail | |
| 0.031 | Neural Tube Defects | NA | GAD,LHGDN | Detail | |
| <0.001 | neuroblastoma | Our results suggest that individuals carriers of genotype AA for the SLC19A1 gen... | BeFree | 24771227 | Detail |
| <0.001 | neuroblastoma | RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with ... | BeFree | 25536437 | Detail |
| 0.007 | osteosarcoma | NA | BeFree,LHGDN | Detail | |
| 0.002 | Pregnancy Complications, Cardiovascular | NA | GAD | Detail | |
| <0.001 | retinoblastoma | NA | BeFree | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| 0.005 | Cerebrovascular accident | We selected three known RFC-1 polymorphisms (-43C>T, 80A>G, 696T>C) and investig... | BeFree,GAD | 25659099 | Detail |
| 0.003 | thrombosis | NA | LHGDN | Detail | |
| 0.120 | Adverse reaction to drug | NA | CTD_human | Detail | |
| 0.002 | B-Cell Lymphomas | NA | GAD | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| 0.002 | T-Cell Lymphoma | NA | GAD | Detail | |
| <0.001 | spina bifida occulta | NA | BeFree | Detail | |
| 0.008 | spina bifida | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| 0.002 | Aortic Aneurysm, Abdominal | NA | GAD | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.010 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| 0.002 | Oxidative Stress | NA | GAD | Detail | |
| <0.001 | Metastatic osteosarcoma | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| <0.001 | Primary central nervous system lymphoma | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of prostate | NA | GAD | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| 0.080 | Chronic Kidney Insufficiency | NA | RGD | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| 0.007 | Methotrexate poisoning | NA | GAD | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.003 | hyperhomocysteinemia | NA | BeFree,GAD | Detail | |
| 0.003 | breast carcinoma | A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS a... | BeFree | 25598430 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | extranodal lymphoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | Our results suggest that individuals carriers of genotype AA for the SLC19A1 gen... | BeFree | 24771227 | Detail |
| <0.001 | Central neuroblastoma | RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with ... | BeFree | 25536437 | Detail |
| <0.001 | adult acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | brain infarction | Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stro... | BeFree | 25659099 | Detail |
| 0.002 | Congenital omphalocele | NA | GAD | Detail | |
| <0.001 | Cleft lip with or without cleft palate | RFC1 and non-syndromic cleft lip with or without cleft palate: an association ba... | BeFree | 24942095 | Detail |
| <0.001 | Acute GVH disease | While donor single nucleotide polymorphisms of dihydrofolate reductase and solut... | BeFree | 25425682 | Detail |
| 0.003 | Acute lymphocytic leukemia | We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... | BeFree | 18458567 | Detail |
| 0.003 | hyperhomocysteinemia | To the best of our knowledge, this is the first family with multiple AIS patient... | BeFree | 18958479 | Detail |
| <0.001 | retinoblastoma | A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... | BeFree | 20310006 | Detail |
| 0.003 | coronary artery disease | In view of growing body of evidence favouring the association of aberrations in ... | BeFree | 22147344 | Detail |
| 0.003 | Acute lymphocytic leukemia | Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... | BeFree | 22838948 | Detail |
| 0.120 | adenoma | Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs1... | BeFree | 21274745 | Detail |
| 0.020 | rheumatoid arthritis | Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese... | BeFree | 17965559 | Detail |
| 0.003 | Coronary heart disease | Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... | BeFree | 23701284 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squa... | BeFree | 20661649 | Detail |
| <0.001 | Ischemic stroke | Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stro... | BeFree | 25659099 | Detail |
| 0.005 | Lymphoma, Non-Hodgkin | The polymorphisms examined and haplotypes generated included thymidylate synthas... | BeFree | 15198953 | Detail |
| 0.120 | autistic disorder | Subsequent log linear analysis of the RFC1 A80G genotype within family trios rev... | BeFree | 20468076 | Detail |
| 0.006 | Malignant neoplasm of breast | Conversely, for women over 50, the risk of breast cancer development was statist... | BeFree | 22134752 | Detail |
| 0.001 | Leukemia, Lymphocytic, Acute, L1 | In conclusion, the RFC1 G80A polymorphism does not seem to be a good marker of M... | BeFree | 24597986 | Detail |
| 0.132 | Precursor Cell Lymphoblastic Leukemia Lymphoma | We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... | BeFree | 18458567 | Detail |
| <0.001 | Colorectal cancer metastatic | NA | BeFree | Detail | |
| 0.135 | Down syndrome | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... | BeFree | 18273817 | Detail |
| 0.020 | rheumatoid arthritis | We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A)... | BeFree | 15457444 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | The polymorphisms examined and haplotypes generated included thymidylate synthas... | BeFree | 15198953 | Detail |
| 0.008 | spina bifida | Although this study did not find an increased spina bifida risk for infants who ... | BeFree | 11857541 | Detail |
| 0.006 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| <0.001 | Homocysteinemia | To the best of our knowledge, this is the first family with multiple AIS patient... | BeFree | 18958479 | Detail |
| 0.003 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.003 | Acute lymphocytic leukemia | This study evaluated the effect of the G80A polymorphism in the RFC1 gene on sur... | BeFree | 22914600 | Detail |
| <0.001 | esophagitis | In addition, there was a trend toward reduced hematological toxicity among patie... | BeFree | 25041994 | Detail |
| 0.132 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... | BeFree | 22838948 | Detail |
| 0.003 | breast carcinoma | Conversely, for women over 50, the risk of breast cancer development was statist... | BeFree | 22134752 | Detail |
| 0.020 | rheumatoid arthritis | The aim of our study was to characterize the association of clinicopathological ... | BeFree | 24350725 | Detail |
| <0.001 | stomatitis | In addition, there was a trend toward reduced hematological toxicity among patie... | BeFree | 25041994 | Detail |
| 0.132 | Precursor Cell Lymphoblastic Leukemia Lymphoma | This study evaluated the effect of the G80A polymorphism in the RFC1 gene on sur... | BeFree | 22914600 | Detail |
| 0.020 | rheumatoid arthritis | We investigated whether polymorphisms in reduced folate carrier (SLC19A1 G80A) a... | BeFree | 15564880 | Detail |
| 0.020 | rheumatoid arthritis | The results of this study suggest that the RFC1 G80A polymorphism may be a usefu... | BeFree | 22971639 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| 0.005 | Cerebrovascular accident | Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. | BeFree | 18958479 | Detail |
| <0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
| <0.001 | childhood leukemia | NA | BeFree | Detail | |
| 0.004 | colorectal cancer | In conclusion, this is the first study to simultaneously evaluate both DNA methy... | BeFree,GAD | 25697897 | Detail |
| 0.002 | Venous thromboembolism | NA | GAD | Detail | |
| 0.003 | coronary artery disease | NA | BeFree,GAD | Detail | |
| 0.132 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Effects of a microRNA binding site polymorphism in SLC19A1 on methotrexate conce... | BeFree,CTD_human,GAD,LHGDN | 24927955 | Detail |
| <0.001 | Maternal Fever | However, the interaction between the SLC19A1 gene variant and maternal fever exp... | BeFree | 24917213 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stro... | BeFree | 25659099 | Detail |
| <0.001 | Homocysteinemia | NA | BeFree | Detail | |
| <0.001 | Juvenile arthritis | NA | BeFree | Detail | |
| <0.001 | juvenile rheumatoid arthritis | NA | BeFree | Detail | |
| 0.003 | Abruptio Placentae | NA | LHGDN | Detail | |
| 0.003 | adenocarcinoma | NA | BeFree,GAD | Detail | |
| 0.120 | adenoma | NA | BeFree,CTD_human | Detail | |
| 0.020 | rheumatoid arthritis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.120 | autistic disorder | NA | BeFree,CTD_human | Detail | |
| 0.005 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.120 | Bladder Neoplasm | NA | CTD_human | Detail | |
| 0.006 | Malignant neoplasm of breast | A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS a... | BeFree,GAD | 25598430 | Detail |
| 0.002 | Malignant tumor of colon | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
| 0.003 | Non-small cell lung carcinoma | NA | BeFree,GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We selected three known RFC-1 polymorphisms (-43C>T, 80A>G, 696T>C) and investigated their relations... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, this is the first study to simultaneously evaluate both DNA methylation and protein e... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Effects of a microRNA binding site polymorphism in SLC19A1 on methotrexate concentrations in Chinese... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblasto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that individuals carriers of genotype AA for the SLC19A1 gene present risk for t... | DisGeNET | Detail |
| RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblasto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We selected three known RFC-1 polymorphisms (-43C>T, 80A>G, 696T>C) and investigated their relations... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS and SLC19A1, were ass... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that individuals carriers of genotype AA for the SLC19A1 gene present risk for t... | DisGeNET | Detail |
| RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblasto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| RFC1 and non-syndromic cleft lip with or without cleft palate: an association based study in Italy. | DisGeNET | Detail |
| While donor single nucleotide polymorphisms of dihydrofolate reductase and solute carrier family 19 ... | DisGeNET | Detail |
| We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... | DisGeNET | Detail |
| To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... | DisGeNET | Detail |
| A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... | DisGeNET | Detail |
| In view of growing body of evidence favouring the association of aberrations in one-carbon metabolis... | DisGeNET | Detail |
| Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... | DisGeNET | Detail |
| Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs12482346, and rs28389... | DisGeNET | Detail |
| Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese RA patients, while ... | DisGeNET | Detail |
| Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... | DisGeNET | Detail |
| A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma ... | DisGeNET | Detail |
| Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain ... | DisGeNET | Detail |
| The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... | DisGeNET | Detail |
| Subsequent log linear analysis of the RFC1 A80G genotype within family trios revealed that the mater... | DisGeNET | Detail |
| Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... | DisGeNET | Detail |
| In conclusion, the RFC1 G80A polymorphism does not seem to be a good marker of MTX-related toxicity ... | DisGeNET | Detail |
| We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... | DisGeNET | Detail |
| We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and ... | DisGeNET | Detail |
| The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... | DisGeNET | Detail |
| Although this study did not find an increased spina bifida risk for infants who were heterozygous or... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of re... | DisGeNET | Detail |
| In addition, there was a trend toward reduced hematological toxicity among patients with variants of... | DisGeNET | Detail |
| Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... | DisGeNET | Detail |
| Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... | DisGeNET | Detail |
| The aim of our study was to characterize the association of clinicopathological variables and the SL... | DisGeNET | Detail |
| In addition, there was a trend toward reduced hematological toxicity among patients with variants of... | DisGeNET | Detail |
| This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of re... | DisGeNET | Detail |
| We investigated whether polymorphisms in reduced folate carrier (SLC19A1 G80A) and gamma-glutamyl-hy... | DisGeNET | Detail |
| The results of this study suggest that the RFC1 G80A polymorphism may be a useful marker for predict... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, this is the first study to simultaneously evaluate both DNA methylation and protein e... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Effects of a microRNA binding site polymorphism in SLC19A1 on methotrexate concentrations in Chinese... | DisGeNET | Detail |
| However, the interaction between the SLC19A1 gene variant and maternal fever exposure and NTD risk r... | DisGeNET | Detail |
| Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS and SLC19A1, were ass... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386514057 dbSNP
- Genome
- hg19
- Position
- chr21:46,918,115-46,983,029
- Variant Type
- snv
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