rs143397927
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs143397927(A;G) |
| Make rs143397927(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 12 |
| Position | 32850852 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143397927 |
| dbSNP (classic) | rs143397927 |
| ClinGen | rs143397927 |
| ebi | rs143397927 |
| HLI | rs143397927 |
| Exac | rs143397927 |
| Gnomad | rs143397927 |
| Varsome | rs143397927 |
| LitVar | rs143397927 |
| Map | rs143397927 |
| PheGenI | rs143397927 |
| Biobank | rs143397927 |
| 1000 genomes | rs143397927 |
| hgdp | rs143397927 |
| ensembl | rs143397927 |
| geneview | rs143397927 |
| scholar | rs143397927 |
| rs143397927 | |
| pharmgkb | rs143397927 |
| gwascentral | rs143397927 |
| openSNP | rs143397927 |
| 23andMe | rs143397927 |
| SNPshot | rs143397927 |
| SNPdbe | rs143397927 |
| MSV3d | rs143397927 |
| GWAS Ctlg | rs143397927 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143397927(G;G) rs143397927(T;T) |
| Alt | rs143397927(G;G) rs143397927(T;T) |
| Reference | Rs143397927(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PKP2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.33003786A>T |
| CLNSRC | |
| CLNACC | RCV000254703.2, |
