Difference between revisions of "Rs104894639"
From SNPedia
OrientalBot (talk | contribs) (Set StabilizedOrientation) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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| Line 24: | Line 24: | ||
|REF=C | |REF=C | ||
|ALT=T | |ALT=T | ||
| − | |RSPOS= | + | |RSPOS=80210622 |
|CHROM=17 | |CHROM=17 | ||
|dbSNPBuildID=132 | |dbSNPBuildID=132 | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x0502600c0a05000002110100 |
|GENEINFO=SGSH:6448 | |GENEINFO=SGSH:6448 | ||
|GENE_NAME=SGSH | |GENE_NAME=SGSH | ||
|GENE_ID=6448 | |GENE_ID=6448 | ||
| − | |WGT= | + | |WGT=1 |
|VC=SNV | |VC=SNV | ||
|CLNALLE=1 | |CLNALLE=1 | ||
| − | |CLNHGVS=NC_000017. | + | |CLNHGVS=NC_000017.11:g.80210622C>T |
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=ClinVar; OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=605270.0006 | + | |CLNSRCID=NM_000199.3:c.1339G>A; 605270.0006 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0086647 | |CLNCUI=C0086647 | ||
| Line 45: | Line 45: | ||
|Disease=Mucopolysaccharidosis | |Disease=Mucopolysaccharidosis | ||
|CLNACC=RCV000005421.1 | |CLNACC=RCV000005421.1 | ||
| − | |Tags=RV;PM;S3D; | + | |Tags=RV;PM;S3D;NSM;REF;INT;R3;ASP;LSD;OM |
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT | |CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT | ||
| − | |CLNDSDBID=NBK1875:C0086647:252900: | + | |CLNDSDBID=NBK1875:C0086647:252900:ORPHA581:41572006 |
| + | |CLNREVSTAT=single | ||
}} | }} | ||
Revision as of 03:49, 10 February 2015
| Orientation | minus |
| Stabilized | 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 | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80210622 |
| 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_000017.11:g.80210622C>T |
| CLNSRC | ClinVar OMIM Allelic Variant |
| CLNACC | RCV000005421.1, |
