rs7499
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs7499(A;A) |
| Make rs7499(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 45512414 |
| Gene | COL18A1, SLC19A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7499 |
| dbSNP (classic) | rs7499 |
| ClinGen | rs7499 |
| ebi | rs7499 |
| HLI | rs7499 |
| Exac | rs7499 |
| Gnomad | rs7499 |
| Varsome | rs7499 |
| LitVar | rs7499 |
| Map | rs7499 |
| PheGenI | rs7499 |
| Biobank | rs7499 |
| 1000 genomes | rs7499 |
| hgdp | rs7499 |
| ensembl | rs7499 |
| geneview | rs7499 |
| scholar | rs7499 |
| rs7499 | |
| pharmgkb | rs7499 |
| gwascentral | rs7499 |
| openSNP | rs7499 |
| 23andMe | rs7499 |
| SNPshot | rs7499 |
| SNPdbe | rs7499 |
| MSV3d | rs7499 |
| GWAS Ctlg | rs7499 |
| GMAF | 0.4669 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22461898
] A 3' UTR SNP in COL18A1 Is Associated with Susceptibility to HBV Related Hepatocellular Carcinoma in Chinese: Three Independent Case-Control Studies
[PMID 12415512] Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
[PMID 22450926] Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients.
[PMID 25124723] SLC19A1, SLC46A1 and SLCO1B1 Polymorphisms As Predictors Of Methotrexate-Related Toxicity In Portuguese Rheumatoid Arthritis Patients
| ClinVar | |
|---|---|
| Risk | rs7499(A;A) |
| Alt | rs7499(A;A) |
| Reference | Rs7499(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Knobloch syndrome 1 |
| Variation | info |
| Gene | COL18A1 |
| CLNDBN | not specified Knobloch syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.46932328G>A |
| CLNSRC | |
| CLNACC | RCV000249700.1, RCV000368050.1, |
[PMID 31099054] Membrane-Spanning Protein Genetic Polymorphisms Related to Methotrexate Therapeutic Outcomes in a Chinese Rheumatoid Arthritis Population.
