Difference between revisions of "Rs119465999"
From SNPedia
SNPediaBot (talk | contribs) m (set GMAF) |
SNPediaBot (talk | contribs) m (added ClinVar data) |
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|rsnum=119465999 | |rsnum=119465999 | ||
|variant=0001 | |variant=0001 | ||
| + | }}{{ClinVar | ||
| + | |ALT=T | ||
| + | |CAF=0.9977; 0.002296 | ||
| + | |CHROM=16 | ||
| + | |CLNACC=RCV000003345.3 | ||
| + | |CLNALLE=1 | ||
| + | |CLNDBN=North american indian childhood cirrhosis | ||
| + | |CLNDSDB=NCBI:OMIM:Orphanet | ||
| + | |CLNDSDBID=C1858051:604901:168583 | ||
| + | |CLNHGVS=NC_000016.9:g.69199289C>T | ||
| + | |CLNORIGIN=1 | ||
| + | |CLNSIG=5 | ||
| + | |CLNSRC=GTR; OMIM Allelic Variant | ||
| + | |CLNSRCID=GTR000205309; 607456.0001 | ||
| + | |COMMON=1 | ||
| + | |Disease=North american indian childhood cirrhosis | ||
| + | |FwdALT=T | ||
| + | |FwdREF=C | ||
| + | |GENEINFO=CIRH1A:84916 | ||
| + | |GENE_ID=84916 | ||
| + | |GENE_NAME=CIRH1A | ||
| + | |REF=C | ||
| + | |RSPOS=69199289 | ||
| + | |Reversed=0 | ||
| + | |SAO=1 | ||
| + | |SSR=0 | ||
| + | |Tags=PM;NSM;REF;KGPhase1;KGPROD;OTHERKG;LSD;OM | ||
| + | |VC=SNV | ||
| + | |VP=0x050060000a01000016110100 | ||
| + | |WGT=1 | ||
| + | |dbSNPBuildID=132 | ||
| + | |rsid=119465999 | ||
}} | }} | ||
Revision as of 13:53, 27 August 2013
| 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 | 0.0023 |
| 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 | RCV000003345.3, |
