rs3803183
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs3803183(A;T) |
| Make rs3803183(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 48004297 |
| Gene | COL2A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3803183 |
| dbSNP (classic) | rs3803183 |
| ClinGen | rs3803183 |
| ebi | rs3803183 |
| HLI | rs3803183 |
| Exac | rs3803183 |
| Gnomad | rs3803183 |
| Varsome | rs3803183 |
| LitVar | rs3803183 |
| Map | rs3803183 |
| PheGenI | rs3803183 |
| Biobank | rs3803183 |
| 1000 genomes | rs3803183 |
| hgdp | rs3803183 |
| ensembl | rs3803183 |
| geneview | rs3803183 |
| scholar | rs3803183 |
| rs3803183 | |
| pharmgkb | rs3803183 |
| gwascentral | rs3803183 |
| openSNP | rs3803183 |
| 23andMe | rs3803183 |
| SNPshot | rs3803183 |
| SNPdbe | rs3803183 |
| MSV3d | rs3803183 |
| GWAS Ctlg | rs3803183 |
| GMAF | 0.3049 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19387081
] COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus
[PMID 18523590] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.
[PMID 19430638] Host genetic and epigenetic factors in toxoplasmosis.
| ClinVar | |
|---|---|
| Risk | rs3803183(T;T) |
| Alt | rs3803183(T;T) |
| Reference | Rs3803183(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Type II Collagenopathies Stickler Syndrome |
| Variation | info |
| Gene | COL2A1 |
| CLNDBN | not specified Type II Collagenopathies Stickler Syndrome, Dominant |
| Reversed | 1 |
| HGVS | NC_000012.11:g.48398080T>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079725.5, RCV000342882.1, RCV000406531.1, |
