rs768825050
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs768825050(C;T) |
| Make rs768825050(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 83204849 |
| Gene | XRCC4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768825050 |
| dbSNP (classic) | rs768825050 |
| ClinGen | rs768825050 |
| ebi | rs768825050 |
| HLI | rs768825050 |
| Exac | rs768825050 |
| Gnomad | rs768825050 |
| Varsome | rs768825050 |
| LitVar | rs768825050 |
| Map | rs768825050 |
| PheGenI | rs768825050 |
| Biobank | rs768825050 |
| 1000 genomes | rs768825050 |
| hgdp | rs768825050 |
| ensembl | rs768825050 |
| geneview | rs768825050 |
| scholar | rs768825050 |
| rs768825050 | |
| pharmgkb | rs768825050 |
| gwascentral | rs768825050 |
| openSNP | rs768825050 |
| 23andMe | rs768825050 |
| SNPshot | rs768825050 |
| SNPdbe | rs768825050 |
| MSV3d | rs768825050 |
| GWAS Ctlg | rs768825050 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs768825050(T;T) |
| Alt | rs768825050(T;T) |
| Reference | Rs768825050(C;C) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | XRCC4 |
| CLNDBN | Short stature, microcephaly, and endocrine dysfunction |
| Reversed | 0 |
| HGVS | NC_000005.9:g.82500668C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000190525.3, |
