rs3737548
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3737548(A;A) |
| Make rs3737548(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 47997633 |
| Gene | COL2A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3737548 |
| dbSNP (classic) | rs3737548 |
| ClinGen | rs3737548 |
| ebi | rs3737548 |
| HLI | rs3737548 |
| Exac | rs3737548 |
| Gnomad | rs3737548 |
| Varsome | rs3737548 |
| LitVar | rs3737548 |
| Map | rs3737548 |
| PheGenI | rs3737548 |
| Biobank | rs3737548 |
| 1000 genomes | rs3737548 |
| hgdp | rs3737548 |
| ensembl | rs3737548 |
| geneview | rs3737548 |
| scholar | rs3737548 |
| rs3737548 | |
| pharmgkb | rs3737548 |
| gwascentral | rs3737548 |
| openSNP | rs3737548 |
| 23andMe | rs3737548 |
| SNPshot | rs3737548 |
| SNPdbe | rs3737548 |
| MSV3d | rs3737548 |
| GWAS Ctlg | rs3737548 |
| GMAF | 0.2167 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19019890] COL2A1 gene polymorphisms and susceptibility to osteoarthritis of the hand in Finnish women[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 | rs3737548(A;A) rs3737548(T;T) |
| Alt | rs3737548(A;A) rs3737548(T;T) |
| Reference | Rs3737548(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Stickler Syndrome Type II Collagenopathies |
| Variation | info |
| Gene | COL2A1 |
| CLNDBN | not specified Stickler Syndrome, Dominant Type II Collagenopathies |
| Reversed | 1 |
| HGVS | NC_000012.11:g.48391416G>T |
| CLNSRC | |
| CLNACC | RCV000179829.4, RCV000260987.1, RCV000332793.1, |
