rs28939672
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28939672(A;A) |
| Make rs28939672(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 13288512 |
| Gene | PHYH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939672 |
| dbSNP (classic) | rs28939672 |
| ClinGen | rs28939672 |
| ebi | rs28939672 |
| HLI | rs28939672 |
| Exac | rs28939672 |
| Gnomad | rs28939672 |
| Varsome | rs28939672 |
| LitVar | rs28939672 |
| Map | rs28939672 |
| PheGenI | rs28939672 |
| Biobank | rs28939672 |
| 1000 genomes | rs28939672 |
| hgdp | rs28939672 |
| ensembl | rs28939672 |
| geneview | rs28939672 |
| scholar | rs28939672 |
| rs28939672 | |
| pharmgkb | rs28939672 |
| gwascentral | rs28939672 |
| openSNP | rs28939672 |
| 23andMe | rs28939672 |
| SNPshot | rs28939672 |
| SNPdbe | rs28939672 |
| MSV3d | rs28939672 |
| GWAS Ctlg | rs28939672 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28939672(A;A) |
| Alt | rs28939672(A;A) |
| Reference | Rs28939672(C;C) |
| Significance | Pathogenic |
| Disease | Refsum disease |
| Variation | info |
| Gene | PHYH |
| CLNDBN | Refsum disease, adult, 1 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.13330512G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008024.4, |
