rs35520756
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs35520756(A;A) |
| Make rs35520756(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 66519725 |
| Gene | BBS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35520756 |
| dbSNP (classic) | rs35520756 |
| ClinGen | rs35520756 |
| ebi | rs35520756 |
| HLI | rs35520756 |
| Exac | rs35520756 |
| Gnomad | rs35520756 |
| Varsome | rs35520756 |
| LitVar | rs35520756 |
| Map | rs35520756 |
| PheGenI | rs35520756 |
| Biobank | rs35520756 |
| 1000 genomes | rs35520756 |
| hgdp | rs35520756 |
| ensembl | rs35520756 |
| geneview | rs35520756 |
| scholar | rs35520756 |
| rs35520756 | |
| pharmgkb | rs35520756 |
| gwascentral | rs35520756 |
| openSNP | rs35520756 |
| 23andMe | rs35520756 |
| SNPshot | rs35520756 |
| SNPdbe | rs35520756 |
| MSV3d | rs35520756 |
| GWAS Ctlg | rs35520756 |
| GMAF | 0.02066 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs35520756(A;A) |
| Alt | rs35520756(A;A) |
| Reference | Rs35520756(G;G) |
| Significance | Other |
| Disease | Bardet-Biedl syndrome not specified not provided |
| Variation | info |
| Gene | BBS1 |
| CLNDBN | Bardet-Biedl syndrome not specified not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.66287196G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000029405.7, RCV000243662.2, RCV000436346.1, |
[PMID 12567324
] Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
[PMID 12677556] Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
