rs143149764
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs143149764(A;G) |
| Make rs143149764(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 19347782 |
| Gene | B9D1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143149764 |
| dbSNP (classic) | rs143149764 |
| ClinGen | rs143149764 |
| ebi | rs143149764 |
| HLI | rs143149764 |
| Exac | rs143149764 |
| Gnomad | rs143149764 |
| Varsome | rs143149764 |
| LitVar | rs143149764 |
| Map | rs143149764 |
| PheGenI | rs143149764 |
| Biobank | rs143149764 |
| 1000 genomes | rs143149764 |
| hgdp | rs143149764 |
| ensembl | rs143149764 |
| geneview | rs143149764 |
| scholar | rs143149764 |
| rs143149764 | |
| pharmgkb | rs143149764 |
| gwascentral | rs143149764 |
| openSNP | rs143149764 |
| 23andMe | rs143149764 |
| SNPshot | rs143149764 |
| SNPdbe | rs143149764 |
| MSV3d | rs143149764 |
| GWAS Ctlg | rs143149764 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143149764(G;G) |
| Alt | rs143149764(G;G) |
| Reference | Rs143149764(A;A) |
| Significance | Pathogenic |
| Disease | Meckel syndrome not provided |
| Variation | info |
| Gene | B9D1 |
| CLNDBN | Meckel syndrome, type 9 not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.19251095A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024098.5, RCV000049798.1, |
[PMID 21493627
] B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
