rs397507168
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Hermansky-Pudlak syndrome 3 mutation |
| Make rs397507168(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 149163840 |
| Gene | CP, HPS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507168 |
| dbSNP (classic) | rs397507168 |
| ClinGen | rs397507168 |
| ebi | rs397507168 |
| HLI | rs397507168 |
| Exac | rs397507168 |
| Gnomad | rs397507168 |
| Varsome | rs397507168 |
| LitVar | rs397507168 |
| Map | rs397507168 |
| PheGenI | rs397507168 |
| Biobank | rs397507168 |
| 1000 genomes | rs397507168 |
| hgdp | rs397507168 |
| ensembl | rs397507168 |
| geneview | rs397507168 |
| scholar | rs397507168 |
| rs397507168 | |
| pharmgkb | rs397507168 |
| gwascentral | rs397507168 |
| openSNP | rs397507168 |
| 23andMe | rs397507168 |
| SNPshot | rs397507168 |
| SNPdbe | rs397507168 |
| MSV3d | rs397507168 |
| GWAS Ctlg | rs397507168 |
| Max Magnitude | 3 |
aka c.2482-2A>G
| ClinVar | |
|---|---|
| Risk | rs397507168(G;G) |
| Alt | rs397507168(G;G) |
| Reference | Rs397507168(A;A) |
| Significance | Pathogenic |
| Disease | Hermansky-Pudlak syndrome 3 |
| Variation | info |
| Gene | HPS3 CP |
| CLNDBN | Hermansky-Pudlak syndrome 3 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.148881627A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004874.5, |
