Difference between revisions of "Rs119465999"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (set GMAF to 0.002296) |
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|position=69199289 | |position=69199289 | ||
|Orientation=plus | |Orientation=plus | ||
| − | |GMAF=0. | + | |GMAF=0.002296 |
| + | |Assembly=GRCh37 | ||
| + | |GenomeBuild=37.1 | ||
| + | |dbSNPBuild=132 | ||
|geno1=(C;C) | |geno1=(C;C) | ||
|geno2=(C;T) | |geno2=(C;T) | ||
|geno3=(T;T) | |geno3=(T;T) | ||
| − | |||
| − | |||
| − | |||
}} | }} | ||
{{omim | {{omim | ||
Revision as of 18:05, 1 April 2014
| Orientation | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs119465999(C;T) |
| Make rs119465999(T;T) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 16 |
| Position | 69199289 |
| Gene | CIRH1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119465999 |
| dbSNP (classic) | rs119465999 |
| ClinGen | rs119465999 |
| ebi | rs119465999 |
| HLI | rs119465999 |
| Exac | rs119465999 |
| Gnomad | rs119465999 |
| Varsome | rs119465999 |
| LitVar | rs119465999 |
| Map | rs119465999 |
| PheGenI | rs119465999 |
| Biobank | rs119465999 |
| 1000 genomes | rs119465999 |
| hgdp | rs119465999 |
| ensembl | rs119465999 |
| geneview | rs119465999 |
| scholar | rs119465999 |
| rs119465999 | |
| pharmgkb | rs119465999 |
| gwascentral | rs119465999 |
| openSNP | rs119465999 |
| 23andMe | rs119465999 |
| SNPshot | rs119465999 |
| SNPdbe | rs119465999 |
| MSV3d | rs119465999 |
| GWAS Ctlg | rs119465999 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119465999(T;T) |
| Alt | rs119465999(T;T) |
| Reference | Rs119465999(C;C) |
| Significance | Pathogenic |
| Disease | North american indian childhood cirrhosis |
| Variation | info |
| Gene | CIRH1A |
| CLNDBN | North american indian childhood cirrhosis |
| Reversed | 0 |
| HGVS | NC_000016.9:g.69199289C>T |
| CLNSRC | GTR OMIM Allelic Variant |
| CLNACC | RCV000003345.4, |
