Difference between revisions of "Rs1057516196"
From SNPedia
OrientalBot (talk | contribs) (added ClinVar data) |
OrientalBot (talk | contribs) (set StabilizedOrientation=plus;set Orientation=plus) |
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{{Rsnum | {{Rsnum | ||
|rsid=1057516196 | |rsid=1057516196 | ||
| + | |StabilizedOrientation=plus | ||
| + | |Orientation=plus | ||
}} | }} | ||
{{ClinVar | {{ClinVar | ||
Revision as of 12:19, 20 July 2017
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057516196 |
| dbSNP (classic) | rs1057516196 |
| ClinGen | rs1057516196 |
| ebi | rs1057516196 |
| HLI | rs1057516196 |
| Exac | rs1057516196 |
| Gnomad | rs1057516196 |
| Varsome | rs1057516196 |
| LitVar | rs1057516196 |
| Map | rs1057516196 |
| PheGenI | rs1057516196 |
| Biobank | rs1057516196 |
| 1000 genomes | rs1057516196 |
| hgdp | rs1057516196 |
| ensembl | rs1057516196 |
| geneview | rs1057516196 |
| scholar | rs1057516196 |
| rs1057516196 | |
| pharmgkb | rs1057516196 |
| gwascentral | rs1057516196 |
| openSNP | rs1057516196 |
| 23andMe | rs1057516196 |
| SNPshot | rs1057516196 |
| SNPdbe | rs1057516196 |
| MSV3d | rs1057516196 |
| GWAS Ctlg | rs1057516196 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1057516196(C;C) |
| Alt | rs1057516196(C;C) |
| Reference | Rs1057516196(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Nail-patella syndrome |
| Variation | info |
| Gene | LMX1B |
| CLNDBN | Nail-patella syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.129377714dupC |
| CLNSRC | |
| CLNACC | RCV000408886.1, |
