rs751381953
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs751381953(C;C) |
| Make rs751381953(C;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 14627189 |
| Gene | PARN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751381953 |
| dbSNP (classic) | rs751381953 |
| ClinGen | rs751381953 |
| ebi | rs751381953 |
| HLI | rs751381953 |
| Exac | rs751381953 |
| Gnomad | rs751381953 |
| Varsome | rs751381953 |
| LitVar | rs751381953 |
| Map | rs751381953 |
| PheGenI | rs751381953 |
| Biobank | rs751381953 |
| 1000 genomes | rs751381953 |
| hgdp | rs751381953 |
| ensembl | rs751381953 |
| geneview | rs751381953 |
| scholar | rs751381953 |
| rs751381953 | |
| pharmgkb | rs751381953 |
| gwascentral | rs751381953 |
| openSNP | rs751381953 |
| 23andMe | rs751381953 |
| SNPshot | rs751381953 |
| SNPdbe | rs751381953 |
| MSV3d | rs751381953 |
| GWAS Ctlg | rs751381953 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs751381953(C;C) |
| Alt | rs751381953(C;C) |
| Reference | Rs751381953(T;T) |
| Significance | Pathogenic |
| Disease | Pulmonary fibrosis and/or bone marrow failure |
| Variation | info |
| Gene | PARN |
| CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.14721046T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000170589.2, |
