Difference between revisions of "Rs796052801"
From SNPedia
SNPediaBot (talk | contribs) (added ClinVar data) |
m (Update Rsnum - Set: Chromosome Orientation geno1 geno2 geno3 Gene position Gene_s Assembly GenomeBuild dbSNPBuild) |
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{{Rsnum | {{Rsnum | ||
|rsid=796052801 | |rsid=796052801 | ||
| − | }} | + | |Chromosome=X |
| − | {{ClinVar | + | |Orientation=minus |
| + | |geno1=(C;C) | ||
| + | |geno2=(C;G) | ||
| + | |geno3=(G;G) | ||
| + | |Gene=PCDH19 | ||
| + | |position=100408125 | ||
| + | |Gene_s=PCDH19 | ||
| + | |Assembly=GRCh38.p2 | ||
| + | |GenomeBuild=38.2 | ||
| + | |dbSNPBuild=147 | ||
| + | }}{{ClinVar | ||
|ALT=C | |ALT=C | ||
|CHROM=X | |CHROM=X | ||
Revision as of 22:30, 7 April 2016
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs796052801(C;G) |
| Make rs796052801(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 100408125 |
| Gene | PCDH19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796052801 |
| dbSNP (classic) | rs796052801 |
| ClinGen | rs796052801 |
| ebi | rs796052801 |
| HLI | rs796052801 |
| Exac | rs796052801 |
| Gnomad | rs796052801 |
| Varsome | rs796052801 |
| LitVar | rs796052801 |
| Map | rs796052801 |
| PheGenI | rs796052801 |
| Biobank | rs796052801 |
| 1000 genomes | rs796052801 |
| hgdp | rs796052801 |
| ensembl | rs796052801 |
| geneview | rs796052801 |
| scholar | rs796052801 |
| rs796052801 | |
| pharmgkb | rs796052801 |
| gwascentral | rs796052801 |
| openSNP | rs796052801 |
| 23andMe | rs796052801 |
| SNPshot | rs796052801 |
| SNPdbe | rs796052801 |
| MSV3d | rs796052801 |
| GWAS Ctlg | rs796052801 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796052801(G;G) |
| Alt | rs796052801(G;G) |
| Reference | Rs796052801(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PCDH19 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.99663123G>C |
| CLNSRC | |
| CLNACC | RCV000188351.1, |
