rs546102223
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs546102223(C;T) |
| Make rs546102223(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 4 |
| Position | 79983878 |
| Gene | ANTXR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs546102223 |
| dbSNP (classic) | rs546102223 |
| ClinGen | rs546102223 |
| ebi | rs546102223 |
| HLI | rs546102223 |
| Exac | rs546102223 |
| Gnomad | rs546102223 |
| Varsome | rs546102223 |
| LitVar | rs546102223 |
| Map | rs546102223 |
| PheGenI | rs546102223 |
| Biobank | rs546102223 |
| 1000 genomes | rs546102223 |
| hgdp | rs546102223 |
| ensembl | rs546102223 |
| geneview | rs546102223 |
| scholar | rs546102223 |
| rs546102223 | |
| pharmgkb | rs546102223 |
| gwascentral | rs546102223 |
| openSNP | rs546102223 |
| 23andMe | rs546102223 |
| SNPshot | rs546102223 |
| SNPdbe | rs546102223 |
| MSV3d | rs546102223 |
| GWAS Ctlg | rs546102223 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs546102223(T;T) |
| Alt | rs546102223(T;T) |
| Reference | Rs546102223(C;C) |
| Significance | Pathogenic |
| Disease | Hyaline fibromatosis syndrome |
| Variation | info |
| Gene | ANTXR2 |
| CLNDBN | Hyaline fibromatosis syndrome |
| Reversed | 0 |
| HGVS | NC_000004.11:g.80905032C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002716.2, |
