rs1054480
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1054480(C;T) |
| Make rs1054480(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 179113974 |
| Gene | ADAMTS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1054480 |
| dbSNP (classic) | rs1054480 |
| ClinGen | rs1054480 |
| ebi | rs1054480 |
| HLI | rs1054480 |
| Exac | rs1054480 |
| Gnomad | rs1054480 |
| Varsome | rs1054480 |
| LitVar | rs1054480 |
| Map | rs1054480 |
| PheGenI | rs1054480 |
| Biobank | rs1054480 |
| 1000 genomes | rs1054480 |
| hgdp | rs1054480 |
| ensembl | rs1054480 |
| geneview | rs1054480 |
| scholar | rs1054480 |
| rs1054480 | |
| pharmgkb | rs1054480 |
| gwascentral | rs1054480 |
| openSNP | rs1054480 |
| 23andMe | rs1054480 |
| SNPshot | rs1054480 |
| SNPdbe | rs1054480 |
| MSV3d | rs1054480 |
| GWAS Ctlg | rs1054480 |
| GMAF | 0.2521 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23491141] Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study
| ClinVar | |
|---|---|
| Risk | rs1054480(T;T) |
| Alt | rs1054480(T;T) |
| Reference | Rs1054480(C;C) |
| Significance | Non-pathogenic |
| Disease | Ehlers-Danlos syndrome not specified |
| Variation | info |
| Gene | ADAMTS2 |
| CLNDBN | Ehlers-Danlos syndrome, type vii, autosomal recessive not specified |
| Reversed | 1 |
| HGVS | NC_000005.9:g.178540975G>A |
| CLNSRC | |
| CLNACC | RCV000299782.1, RCV000422671.1, |
