rs730882059
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs730882059(C;G) |
| Make rs730882059(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 22 |
| Position | 19723410 |
| Gene | GP1BB, SEPT5, SEPT5-GP1BB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730882059 |
| dbSNP (classic) | rs730882059 |
| ClinGen | rs730882059 |
| ebi | rs730882059 |
| HLI | rs730882059 |
| Exac | rs730882059 |
| Gnomad | rs730882059 |
| Varsome | rs730882059 |
| LitVar | rs730882059 |
| Map | rs730882059 |
| PheGenI | rs730882059 |
| Biobank | rs730882059 |
| 1000 genomes | rs730882059 |
| hgdp | rs730882059 |
| ensembl | rs730882059 |
| geneview | rs730882059 |
| scholar | rs730882059 |
| rs730882059 | |
| pharmgkb | rs730882059 |
| gwascentral | rs730882059 |
| openSNP | rs730882059 |
| 23andMe | rs730882059 |
| SNPshot | rs730882059 |
| SNPdbe | rs730882059 |
| MSV3d | rs730882059 |
| GWAS Ctlg | rs730882059 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs730882059(G;G) |
| Alt | rs730882059(G;G) |
| Reference | Rs730882059(C;C) |
| Significance | Pathogenic |
| Disease | Bernard-Soulier syndrome |
| Variation | info |
| Gene | SEPT5 SEPT5-GP1BB GP1BB |
| CLNDBN | Bernard-Soulier syndrome, type B |
| Reversed | 0 |
| HGVS | NC_000022.10:g.19710933C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017416.27, |
