chr17:18327873:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:18,231,187-18,266,864 |
| hg38 | chr17:18,327,873-18,363,550 |
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 |
|---|---|---|---|---|---|
| 0.003 | squamous cell carcinoma | NA | LHGDN | Detail | |
| 0.006 | Cardiovascular Diseases | We identified novel associations between SNPs in CD320 and DNMT2, which had been... | BeFree,GAD | 25948668 | Detail |
| 0.002 | brain ischemia | NA | GAD | Detail | |
| 0.002 | cleft lip | NA | GAD | Detail | |
| 0.002 | cleft palate | NA | GAD | Detail | |
| 0.002 | Colonic Neoplasms | NA | GAD | Detail | |
| 0.002 | drug allergy | NA | GAD | Detail | |
| 0.003 | epilepsy | NA | BeFree,GAD | Detail | |
| <0.001 | Folic Acid Deficiency | We examined the effects of maternal supplementation with the pyrimidine nucleosi... | BeFree | 25833982 | Detail |
| 0.002 | Gastrointestinal Diseases | NA | GAD | Detail | |
| 0.002 | congenital heart defects | NA | GAD | Detail | |
| 0.002 | Hematological Disease | NA | GAD | Detail | |
| 0.002 | Kidney Diseases | NA | GAD | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.003 | Leukemia, Myelocytic, Acute | NA | BeFree,GAD | Detail | |
| 0.005 | Lung Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.008 | lymphoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.128 | Lymphoma, Non-Hodgkin | Our results of the pooled subjects showed a significantly enhanced NHL risk for ... | BeFree,CTD_human,GAD | 25384508 | Detail |
| 0.120 | nervous system disorder | NA | CTD_human | Detail | |
| 0.005 | Neural Tube Defects | NA | GAD | Detail | |
| 0.002 | osteosarcoma | NA | GAD | Detail | |
| <0.001 | ovarian carcinoma | Although no other associations were significant after multiple testing correctio... | BeFree | 25066213 | Detail |
| 0.002 | Rectal Neoplasms | NA | GAD | Detail | |
| 0.005 | schizophrenia | NA | BeFree,GAD | Detail | |
| 0.003 | Cerebrovascular accident | NA | BeFree,GAD | Detail | |
| <0.001 | Giant Cell Arteritis | NA | BeFree | 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 | |
| 0.005 | spina bifida | NA | GAD | Detail | |
| <0.001 | severe combined immunodeficiency | The expression of the PRSS3, ABCC4, TXN, SHMT1 and CMPK genes was significantly ... | BeFree | 25405593 | Detail |
| 0.002 | Migraine Disorders | NA | GAD | Detail | |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| 0.002 | Aortic Aneurysm, Abdominal | NA | GAD | Detail | |
| 0.006 | Malignant neoplasm of lung | SHMT1 knockdown induces apoptosis in lung cancer cells by causing uracil misinco... | BeFree,GAD | 25412303 | Detail |
| 0.003 | Cancer of Head and Neck | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| 0.006 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of esophagus | NA | GAD | Detail | |
| 0.002 | Methotrexate poisoning | NA | GAD | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.005 | hyperhomocysteinemia | NA | GAD | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | Although no other associations were significant after multiple testing correctio... | BeFree | 25066213 | Detail |
| 0.001 | breast carcinoma | A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS a... | BeFree | 25598430 | Detail |
| <0.001 | Carcinoma of lung | SHMT1 knockdown induces apoptosis in lung cancer cells by causing uracil misinco... | BeFree | 25412303 | Detail |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.002 | Cardiac defects | NA | GAD | Detail | |
| <0.001 | adult acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| 0.001 | breast carcinoma | Conversely, for women over 50, the risk of breast cancer development was statist... | BeFree | 22134752 | Detail |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| 0.010 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... | BeFree | 22838948 | Detail |
| 0.128 | Lymphoma, Non-Hodgkin | The polymorphisms examined and haplotypes generated included thymidylate synthas... | BeFree | 15198953 | Detail |
| <0.001 | Acute lymphocytic leukemia | Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... | BeFree | 22838948 | Detail |
| 0.008 | Malignant neoplasm of breast | Conversely, for women over 50, the risk of breast cancer development was statist... | BeFree | 22134752 | Detail |
| 0.003 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | The polymorphisms examined and haplotypes generated included thymidylate synthas... | BeFree | 15198953 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
| <0.001 | gastric cardia adenocarcinoma | NA | BeFree | Detail | |
| 0.125 | Mammary Neoplasms | NA | CTD_human,LHGDN | Detail | |
| 0.010 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree,GAD | Detail | |
| <0.001 | Alcoholic Steatohepatitis | Furthermore, we observe serine deficiency in patients with NASH and identify PSP... | BeFree | 24419221 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| 0.003 | adenocarcinoma | NA | LHGDN | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| 0.005 | rheumatoid arthritis | NA | GAD | Detail | |
| 0.003 | autistic disorder | NA | BeFree,GAD | Detail | |
| 0.002 | Mental disorders | NA | GAD | Detail | |
| 0.005 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.002 | Bone neoplasms | NA | GAD | Detail | |
| 0.008 | Malignant neoplasm of breast | A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS a... | BeFree,GAD | 25598430 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
| 0.002 | Non-small cell lung carcinoma | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| We identified novel associations between SNPs in CD320 and DNMT2, which had been previously associat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We examined the effects of maternal supplementation with the pyrimidine nucleosides uridine, thymidi... | 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 |
| Our results of the pooled subjects showed a significantly enhanced NHL risk for CBS Ex9 + 33C > T (T... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although no other associations were significant after multiple testing correction, variants in SHMT1... | 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 |
| The expression of the PRSS3, ABCC4, TXN, SHMT1 and CMPK genes was significantly promoted in the orth... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| SHMT1 knockdown induces apoptosis in lung cancer cells by causing uracil misincorporation. | 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 |
| Although no other associations were significant after multiple testing correction, variants in SHMT1... | DisGeNET | Detail |
| A number of these SNPs, specifically in genes including MTR, MTRR, SHMT1, TYMS and SLC19A1, were ass... | DisGeNET | Detail |
| SHMT1 knockdown induces apoptosis in lung cancer cells by causing uracil misincorporation. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... | DisGeNET | Detail |
| The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... | 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 |
| NA | DisGeNET | Detail |
| The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, we observe serine deficiency in patients with NASH and identify PSPH, SHMT1 and BCAT1 a... | 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
- hg38
- Position
- chr17:18,327,873-18,363,550
- Variant Type
- snv
Genome browser