rs80356555
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs80356555(A;G) |
| Make rs80356555(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 83537005 |
| Gene | VCAN, VCAN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356555 |
| dbSNP (classic) | rs80356555 |
| ClinGen | rs80356555 |
| ebi | rs80356555 |
| HLI | rs80356555 |
| Exac | rs80356555 |
| Gnomad | rs80356555 |
| Varsome | rs80356555 |
| LitVar | rs80356555 |
| Map | rs80356555 |
| PheGenI | rs80356555 |
| Biobank | rs80356555 |
| 1000 genomes | rs80356555 |
| hgdp | rs80356555 |
| ensembl | rs80356555 |
| geneview | rs80356555 |
| scholar | rs80356555 |
| rs80356555 | |
| pharmgkb | rs80356555 |
| gwascentral | rs80356555 |
| openSNP | rs80356555 |
| 23andMe | rs80356555 |
| SNPshot | rs80356555 |
| SNPdbe | rs80356555 |
| MSV3d | rs80356555 |
| GWAS Ctlg | rs80356555 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356555(G;G) rs80356555(T;T) |
| Alt | rs80356555(G;G) rs80356555(T;T) |
| Reference | Rs80356555(A;A) |
| Significance | Pathogenic |
| Disease | Wagner syndrome |
| Variation | info |
| Gene | LOC105379054 VCAN |
| CLNDBN | Wagner syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.82832824A>G; NC_000005.9:g.82832824A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019046.29, RCV000034807.30, |
[PMID 16043844] Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
[PMID 16877430] Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
