rs34667348
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34667348(A;A) |
| Make rs34667348(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 47650919 |
| Gene | PHKB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34667348 |
| dbSNP (classic) | rs34667348 |
| ClinGen | rs34667348 |
| ebi | rs34667348 |
| HLI | rs34667348 |
| Exac | rs34667348 |
| Gnomad | rs34667348 |
| Varsome | rs34667348 |
| LitVar | rs34667348 |
| Map | rs34667348 |
| PheGenI | rs34667348 |
| Biobank | rs34667348 |
| 1000 genomes | rs34667348 |
| hgdp | rs34667348 |
| ensembl | rs34667348 |
| geneview | rs34667348 |
| scholar | rs34667348 |
| rs34667348 | |
| pharmgkb | rs34667348 |
| gwascentral | rs34667348 |
| openSNP | rs34667348 |
| 23andMe | rs34667348 |
| SNPshot | rs34667348 |
| SNPdbe | rs34667348 |
| MSV3d | rs34667348 |
| GWAS Ctlg | rs34667348 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
[PMID 28146470
] Rare and low-frequency coding variants alter human adult height.
| ClinVar | |
|---|---|
| Risk | rs34667348(A;A) rs34667348(T;T) |
| Alt | rs34667348(A;A) rs34667348(T;T) |
| Reference | Rs34667348(C;C) |
| Significance | Pathogenic |
| Disease | not specified Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency |
| Variation | info |
| Gene | PHKB |
| CLNDBN | not specified Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency |
| Reversed | 0 |
| HGVS | NC_000016.9:g.47684830C>A; NC_000016.9:g.47684830C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000403361.1, RCV000014588.26, RCV000394852.1, |
