Difference between revisions of "Rs104894639"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|CLNACC=RCV000005421.1 | |CLNACC=RCV000005421.1 | ||
|Tags=RV;PM;S3D;NSM;REF;OTHERKG;LSD;OM | |Tags=RV;PM;S3D;NSM;REF;OTHERKG;LSD;OM | ||
| − | |CLNDSDB=GeneReviews: | + | |CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT |
|CLNDSDBID=NBK1875:C0086647:252900:581:41572006 | |CLNDSDBID=NBK1875:C0086647:252900:581:41572006 | ||
}} | }} | ||
Revision as of 07:52, 9 September 2013
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
| (G;G) | 0 | common in clinvar |
| Make rs104894639(A;A) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 17 |
| Position | 78184421 |
| Gene | SGSH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894639 |
| dbSNP (classic) | rs104894639 |
| ClinGen | rs104894639 |
| ebi | rs104894639 |
| HLI | rs104894639 |
| Exac | rs104894639 |
| Gnomad | rs104894639 |
| Varsome | rs104894639 |
| LitVar | rs104894639 |
| Map | rs104894639 |
| PheGenI | rs104894639 |
| Biobank | rs104894639 |
| 1000 genomes | rs104894639 |
| hgdp | rs104894639 |
| ensembl | rs104894639 |
| geneview | rs104894639 |
| scholar | rs104894639 |
| rs104894639 | |
| pharmgkb | rs104894639 |
| gwascentral | rs104894639 |
| openSNP | rs104894639 |
| 23andMe | rs104894639 |
| SNPshot | rs104894639 |
| SNPdbe | rs104894639 |
| MSV3d | rs104894639 |
| GWAS Ctlg | rs104894639 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs104894639(A;A) |
| Alt | rs104894639(A;A) |
| Reference | Rs104894639(G;G) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | SGSH |
| CLNDBN | Mucopolysaccharidosis, MPS-III-A |
| Reversed | 1 |
| HGVS | NC_000017.10:g.78184421C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005421.1, |
