rs28938170
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs28938170(C;C) |
| Make rs28938170(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 2831587 |
| Gene | SH3BP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28938170 |
| dbSNP (classic) | rs28938170 |
| ClinGen | rs28938170 |
| ebi | rs28938170 |
| HLI | rs28938170 |
| Exac | rs28938170 |
| Gnomad | rs28938170 |
| Varsome | rs28938170 |
| LitVar | rs28938170 |
| Map | rs28938170 |
| PheGenI | rs28938170 |
| Biobank | rs28938170 |
| 1000 genomes | rs28938170 |
| hgdp | rs28938170 |
| ensembl | rs28938170 |
| geneview | rs28938170 |
| scholar | rs28938170 |
| rs28938170 | |
| pharmgkb | rs28938170 |
| gwascentral | rs28938170 |
| openSNP | rs28938170 |
| 23andMe | rs28938170 |
| SNPshot | rs28938170 |
| SNPdbe | rs28938170 |
| MSV3d | rs28938170 |
| GWAS Ctlg | rs28938170 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28938170(A;A) rs28938170(C;C) |
| Alt | rs28938170(A;A) rs28938170(C;C) |
| Reference | Rs28938170(G;G) |
| Significance | Pathogenic |
| Disease | not provided Fibrous dysplasia of jaw |
| Variation | info |
| Gene | SH3BP2 |
| CLNDBN | not provided Fibrous dysplasia of jaw |
| Reversed | 0 |
| HGVS | NC_000004.11:g.2833314G>A; NC_000004.11:g.2833314G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000414728.1, RCV000007988.2, |
