Difference between revisions of "Rs1057516196"
From SNPedia
OrientalBot (talk | contribs) (added ClinVar data) |
m (Update Rsnum - Set: Chromosome geno1 geno2 geno3 Gene position Gene_s Assembly GenomeBuild dbSNPBuild) |
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{{Rsnum | {{Rsnum | ||
|rsid=1057516196 | |rsid=1057516196 | ||
| − | }} | + | |StabilizedOrientation=plus |
| − | {{ClinVar | + | |Orientation=plus |
| + | |Chromosome=9 | ||
| + | |geno1=(-;-) | ||
| + | |geno2=(-;C) | ||
| + | |geno3=(C;C) | ||
| + | |Gene=LMX1B | ||
| + | |position=126615435 | ||
| + | |Gene_s=LMX1B,LOC105376277 | ||
| + | |Assembly=GRCh38.p7 | ||
| + | |GenomeBuild=38.3 | ||
| + | |dbSNPBuild=150 | ||
| + | }}{{ClinVar | ||
|ALT=TC | |ALT=TC | ||
|CHROM=9 | |CHROM=9 | ||
Latest revision as of 12:04, 23 July 2017
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs1057516196(-;C) |
| Make rs1057516196(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 126615435 |
| Gene | LMX1B, LOC105376277 |
| 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, |
