rs67162110
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs67162110(A;A) |
| Make rs67162110(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 7 |
| Position | 94412122 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67162110 |
| dbSNP (classic) | rs67162110 |
| ClinGen | rs67162110 |
| ebi | rs67162110 |
| HLI | rs67162110 |
| Exac | rs67162110 |
| Gnomad | rs67162110 |
| Varsome | rs67162110 |
| LitVar | rs67162110 |
| Map | rs67162110 |
| PheGenI | rs67162110 |
| Biobank | rs67162110 |
| 1000 genomes | rs67162110 |
| hgdp | rs67162110 |
| ensembl | rs67162110 |
| geneview | rs67162110 |
| scholar | rs67162110 |
| rs67162110 | |
| pharmgkb | rs67162110 |
| gwascentral | rs67162110 |
| openSNP | rs67162110 |
| 23andMe | rs67162110 |
| SNPshot | rs67162110 |
| SNPdbe | rs67162110 |
| MSV3d | rs67162110 |
| GWAS Ctlg | rs67162110 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67162110(A;A) rs67162110(C;C) |
| Alt | rs67162110(A;A) rs67162110(C;C) |
| Reference | Rs67162110(G;G) |
| Significance | Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94041434G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018816.29, |
