rs72656355
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs72656355(A;G) |
| Make rs72656355(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 7 |
| Position | 94401565 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72656355 |
| dbSNP (classic) | rs72656355 |
| ClinGen | rs72656355 |
| ebi | rs72656355 |
| HLI | rs72656355 |
| Exac | rs72656355 |
| Gnomad | rs72656355 |
| Varsome | rs72656355 |
| LitVar | rs72656355 |
| Map | rs72656355 |
| PheGenI | rs72656355 |
| Biobank | rs72656355 |
| 1000 genomes | rs72656355 |
| hgdp | rs72656355 |
| ensembl | rs72656355 |
| geneview | rs72656355 |
| scholar | rs72656355 |
| rs72656355 | |
| pharmgkb | rs72656355 |
| gwascentral | rs72656355 |
| openSNP | rs72656355 |
| 23andMe | rs72656355 |
| SNPshot | rs72656355 |
| SNPdbe | rs72656355 |
| MSV3d | rs72656355 |
| GWAS Ctlg | rs72656355 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72656355(G;G) |
| Alt | rs72656355(G;G) |
| Reference | Rs72656355(A;A) |
| Significance | Pathogenic |
| Disease | Ehlers-Danlos syndrome not provided |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | Ehlers-Danlos syndrome, type 7B not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94030877A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018811.29, RCV000433468.1, |
