rs115596308
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs115596308(A;A) |
| Make rs115596308(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 48411837 |
| Gene | LPAR6, RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115596308 |
| dbSNP (classic) | rs115596308 |
| ClinGen | rs115596308 |
| ebi | rs115596308 |
| HLI | rs115596308 |
| Exac | rs115596308 |
| Gnomad | rs115596308 |
| Varsome | rs115596308 |
| LitVar | rs115596308 |
| Map | rs115596308 |
| PheGenI | rs115596308 |
| Biobank | rs115596308 |
| 1000 genomes | rs115596308 |
| hgdp | rs115596308 |
| ensembl | rs115596308 |
| geneview | rs115596308 |
| scholar | rs115596308 |
| rs115596308 | |
| pharmgkb | rs115596308 |
| gwascentral | rs115596308 |
| openSNP | rs115596308 |
| 23andMe | rs115596308 |
| SNPshot | rs115596308 |
| SNPdbe | rs115596308 |
| MSV3d | rs115596308 |
| GWAS Ctlg | rs115596308 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs115596308(A;A) rs115596308(C;C) |
| Alt | rs115596308(A;A) rs115596308(C;C) |
| Reference | Rs115596308(G;G) |
| Significance | Pathogenic |
| Disease | Hypotrichosis 8 |
| Variation | info |
| Gene | RB1 LPAR6 |
| CLNDBN | Hypotrichosis 8 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.48985973G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023760.2, |
