rs137854887
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs137854887(A;G) |
| Make rs137854887(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 56510923 |
| Gene | BBS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854887 |
| dbSNP (classic) | rs137854887 |
| ClinGen | rs137854887 |
| ebi | rs137854887 |
| HLI | rs137854887 |
| Exac | rs137854887 |
| Gnomad | rs137854887 |
| Varsome | rs137854887 |
| LitVar | rs137854887 |
| Map | rs137854887 |
| PheGenI | rs137854887 |
| Biobank | rs137854887 |
| 1000 genomes | rs137854887 |
| hgdp | rs137854887 |
| ensembl | rs137854887 |
| geneview | rs137854887 |
| scholar | rs137854887 |
| rs137854887 | |
| pharmgkb | rs137854887 |
| gwascentral | rs137854887 |
| openSNP | rs137854887 |
| 23andMe | rs137854887 |
| SNPshot | rs137854887 |
| SNPdbe | rs137854887 |
| MSV3d | rs137854887 |
| GWAS Ctlg | rs137854887 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854887(G;G) |
| Alt | rs137854887(G;G) |
| Reference | Rs137854887(A;A) |
| Significance | Pathogenic |
| Disease | Bardet-Biedl syndrome 2 |
| Variation | info |
| Gene | BBS2 |
| CLNDBN | Bardet-Biedl syndrome 2 |
| Reversed | 1 |
| HGVS | NC_000016.9:g.56544835T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023507.5, |
[PMID 20618352] A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
