rs515726135
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs515726135(A;G) |
| Make rs515726135(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 45835653 |
| Gene | LZTFL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726135 |
| dbSNP (classic) | rs515726135 |
| ClinGen | rs515726135 |
| ebi | rs515726135 |
| HLI | rs515726135 |
| Exac | rs515726135 |
| Gnomad | rs515726135 |
| Varsome | rs515726135 |
| LitVar | rs515726135 |
| Map | rs515726135 |
| PheGenI | rs515726135 |
| Biobank | rs515726135 |
| 1000 genomes | rs515726135 |
| hgdp | rs515726135 |
| ensembl | rs515726135 |
| geneview | rs515726135 |
| scholar | rs515726135 |
| rs515726135 | |
| pharmgkb | rs515726135 |
| gwascentral | rs515726135 |
| openSNP | rs515726135 |
| 23andMe | rs515726135 |
| SNPshot | rs515726135 |
| SNPdbe | rs515726135 |
| MSV3d | rs515726135 |
| GWAS Ctlg | rs515726135 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs515726135(G;G) |
| Alt | rs515726135(G;G) |
| Reference | Rs515726135(A;A) |
| Significance | Pathogenic |
| Disease | Bardet-Biedl syndrome Bardet-Biedl syndrome 17 |
| Variation | info |
| Gene | LZTFL1 |
| CLNDBN | Bardet-Biedl syndrome Bardet-Biedl syndrome 17 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.45877145A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000114319.2, RCV000133552.4, |
