rs751478142
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs751478142(A;A) |
| Make rs751478142(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 5 |
| Position | 138570994 |
| Gene | HSPA9, LOC105379193 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751478142 |
| dbSNP (classic) | rs751478142 |
| ClinGen | rs751478142 |
| ebi | rs751478142 |
| HLI | rs751478142 |
| Exac | rs751478142 |
| Gnomad | rs751478142 |
| Varsome | rs751478142 |
| LitVar | rs751478142 |
| Map | rs751478142 |
| PheGenI | rs751478142 |
| Biobank | rs751478142 |
| 1000 genomes | rs751478142 |
| hgdp | rs751478142 |
| ensembl | rs751478142 |
| geneview | rs751478142 |
| scholar | rs751478142 |
| rs751478142 | |
| pharmgkb | rs751478142 |
| gwascentral | rs751478142 |
| openSNP | rs751478142 |
| 23andMe | rs751478142 |
| SNPshot | rs751478142 |
| SNPdbe | rs751478142 |
| MSV3d | rs751478142 |
| GWAS Ctlg | rs751478142 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs751478142(A;A) |
| Alt | rs751478142(A;A) |
| Reference | Rs751478142(G;G) |
| Significance | Pathogenic |
| Disease | Even-plus syndrome |
| Variation | info |
| Gene | HSPA9 |
| CLNDBN | Even-plus syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.137906683G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000210028.1, |
