rs773317399
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs773317399(A;A) |
| Make rs773317399(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 39666015 |
| Gene | PNMT, TCAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773317399 |
| dbSNP (classic) | rs773317399 |
| ClinGen | rs773317399 |
| ebi | rs773317399 |
| HLI | rs773317399 |
| Exac | rs773317399 |
| Gnomad | rs773317399 |
| Varsome | rs773317399 |
| LitVar | rs773317399 |
| Map | rs773317399 |
| PheGenI | rs773317399 |
| Biobank | rs773317399 |
| 1000 genomes | rs773317399 |
| hgdp | rs773317399 |
| ensembl | rs773317399 |
| geneview | rs773317399 |
| scholar | rs773317399 |
| rs773317399 | |
| pharmgkb | rs773317399 |
| gwascentral | rs773317399 |
| openSNP | rs773317399 |
| 23andMe | rs773317399 |
| SNPshot | rs773317399 |
| SNPdbe | rs773317399 |
| MSV3d | rs773317399 |
| GWAS Ctlg | rs773317399 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs773317399(A;A) rs773317399(T;T) |
| Alt | rs773317399(A;A) rs773317399(T;T) |
| Reference | Rs773317399(C;C) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 1N |
| Variation | info |
| Gene | TCAP PNMT |
| CLNDBN | Dilated cardiomyopathy 1N |
| Reversed | 0 |
| HGVS | NC_000017.10:g.37822268C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000170301.4, |
