rs727503819
From SNPedia
| Merged into | rs727503818 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs727503819(-;-) |
| Make rs727503819(-;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 76346895 |
| Gene | BBS10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727503819 |
| dbSNP (classic) | rs727503819 |
| ClinGen | rs727503819 |
| ebi | rs727503819 |
| HLI | rs727503819 |
| Exac | rs727503819 |
| Gnomad | rs727503819 |
| Varsome | rs727503819 |
| LitVar | rs727503819 |
| Map | rs727503819 |
| PheGenI | rs727503819 |
| Biobank | rs727503819 |
| 1000 genomes | rs727503819 |
| hgdp | rs727503819 |
| ensembl | rs727503819 |
| geneview | rs727503819 |
| scholar | rs727503819 |
| rs727503819 | |
| pharmgkb | rs727503819 |
| gwascentral | rs727503819 |
| openSNP | rs727503819 |
| 23andMe | rs727503819 |
| SNPshot | rs727503819 |
| SNPdbe | rs727503819 |
| MSV3d | rs727503819 |
| GWAS Ctlg | rs727503819 |
| Status | Merged into rs727503818 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs727503819(A;A) |
| Significance | Other |
| Disease | Bardet-Biedl syndrome Bardet-Biedl syndrome 10 |
| Variation | info |
| Gene | BBS10 |
| CLNDBN | Bardet-Biedl syndrome Bardet-Biedl syndrome 10 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.76740674delT |
| CLNSRC | HGMD |
| CLNACC | RCV000152827.4, RCV000169072.3, |
