rs713998
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs713998(C;C) |
| Make rs713998(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 26466246 |
| Gene | HPS4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs713998 |
| dbSNP (classic) | rs713998 |
| ClinGen | rs713998 |
| ebi | rs713998 |
| HLI | rs713998 |
| Exac | rs713998 |
| Gnomad | rs713998 |
| Varsome | rs713998 |
| LitVar | rs713998 |
| Map | rs713998 |
| PheGenI | rs713998 |
| Biobank | rs713998 |
| 1000 genomes | rs713998 |
| hgdp | rs713998 |
| ensembl | rs713998 |
| geneview | rs713998 |
| scholar | rs713998 |
| rs713998 | |
| pharmgkb | rs713998 |
| gwascentral | rs713998 |
| openSNP | rs713998 |
| 23andMe | rs713998 |
| SNPshot | rs713998 |
| SNPdbe | rs713998 |
| MSV3d | rs713998 |
| GWAS Ctlg | rs713998 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23563589] An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients
| ClinVar | |
|---|---|
| Risk | rs713998(C;C) |
| Alt | rs713998(C;C) |
| Reference | Rs713998(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Hermansky-Pudlak syndrome |
| Variation | info |
| Gene | HPS4 |
| CLNDBN | not specified Hermansky-Pudlak syndrome |
| Reversed | 0 |
| HGVS | NC_000022.10:g.26862212T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000150822.2, RCV000260978.1, |
