rs775029664
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs775029664(A;A) |
| Make rs775029664(A;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 67811665 |
| Gene | DNAJC12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775029664 |
| dbSNP (classic) | rs775029664 |
| ClinGen | rs775029664 |
| ebi | rs775029664 |
| HLI | rs775029664 |
| Exac | rs775029664 |
| Gnomad | rs775029664 |
| Varsome | rs775029664 |
| LitVar | rs775029664 |
| Map | rs775029664 |
| PheGenI | rs775029664 |
| Biobank | rs775029664 |
| 1000 genomes | rs775029664 |
| hgdp | rs775029664 |
| ensembl | rs775029664 |
| geneview | rs775029664 |
| scholar | rs775029664 |
| rs775029664 | |
| pharmgkb | rs775029664 |
| gwascentral | rs775029664 |
| openSNP | rs775029664 |
| 23andMe | rs775029664 |
| SNPshot | rs775029664 |
| SNPdbe | rs775029664 |
| MSV3d | rs775029664 |
| GWAS Ctlg | rs775029664 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs775029664(A;A) |
| Alt | rs775029664(A;A) |
| Reference | Rs775029664(T;T) |
| Significance | Pathogenic |
| Disease | Hyperphenylalaninemia |
| Variation | info |
| Gene | DNAJC12 |
| CLNDBN | Hyperphenylalaninemia, mild, non-bh4-deficient |
| Reversed | 0 |
| HGVS | NC_000010.10:g.69571423T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000445360.1, |
