rs13422
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs13422(A;C) |
| Make rs13422(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 15230858 |
| Gene | PMP22 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13422 |
| dbSNP (classic) | rs13422 |
| ClinGen | rs13422 |
| ebi | rs13422 |
| HLI | rs13422 |
| Exac | rs13422 |
| Gnomad | rs13422 |
| Varsome | rs13422 |
| LitVar | rs13422 |
| Map | rs13422 |
| PheGenI | rs13422 |
| Biobank | rs13422 |
| 1000 genomes | rs13422 |
| hgdp | rs13422 |
| ensembl | rs13422 |
| geneview | rs13422 |
| scholar | rs13422 |
| rs13422 | |
| pharmgkb | rs13422 |
| gwascentral | rs13422 |
| openSNP | rs13422 |
| 23andMe | rs13422 |
| SNPshot | rs13422 |
| SNPdbe | rs13422 |
| MSV3d | rs13422 |
| GWAS Ctlg | rs13422 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 27623071
] SP110 and PMP22 polymorphisms are associated with tuberculosis risk in a Chinese-Tibetan population.
| ClinVar | |
|---|---|
| Risk | rs13422(C;C) |
| Alt | rs13422(C;C) |
| Reference | Rs13422(A;A) |
| Significance | Non-pathogenic |
| Disease | Hereditary liability to pressure palsies Charcot-Marie-Tooth |
| Variation | info |
| Gene | PMP22 |
| CLNDBN | Hereditary liability to pressure palsies Charcot-Marie-Tooth, Type 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.15134175T>G |
| CLNSRC | |
| CLNACC | RCV000330964.1, RCV000355581.1, |
