rs1061237
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1061237(C;C) |
| Make rs1061237(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 50185414 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1061237 |
| dbSNP (classic) | rs1061237 |
| ClinGen | rs1061237 |
| ebi | rs1061237 |
| HLI | rs1061237 |
| Exac | rs1061237 |
| Gnomad | rs1061237 |
| Varsome | rs1061237 |
| LitVar | rs1061237 |
| Map | rs1061237 |
| PheGenI | rs1061237 |
| Biobank | rs1061237 |
| 1000 genomes | rs1061237 |
| hgdp | rs1061237 |
| ensembl | rs1061237 |
| geneview | rs1061237 |
| scholar | rs1061237 |
| rs1061237 | |
| pharmgkb | rs1061237 |
| gwascentral | rs1061237 |
| openSNP | rs1061237 |
| 23andMe | rs1061237 |
| SNPshot | rs1061237 |
| SNPdbe | rs1061237 |
| MSV3d | rs1061237 |
| GWAS Ctlg | rs1061237 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 25562121
] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1
| ClinVar | |
|---|---|
| Risk | rs1061237(A;A) rs1061237(C;C) |
| Alt | rs1061237(A;A) rs1061237(C;C) |
| Reference | Rs1061237(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Osteogenesis Imperfecta Ehlers-Danlos syndrome Infantile cortical hyperostosis |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | Osteogenesis Imperfecta, Dominant Ehlers-Danlos syndrome, type 7A Infantile cortical hyperostosis |
| Reversed | 1 |
| HGVS | NC_000017.10:g.48262775A>G |
| CLNSRC | |
| CLNACC | RCV000287367.1, RCV000322041.1, RCV000376642.1, |
