Difference between revisions of "Rs104894639"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
OrientalBot (talk | contribs) (Set on chip ancestryv2) |
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| Line 7: | Line 7: | ||
|geno3=(G;G) | |geno3=(G;G) | ||
|Gene=SGSH | |Gene=SGSH | ||
| − | |position= | + | |position=80210622 |
| − | |Assembly= | + | |Assembly=GRCh38 |
| − | |GenomeBuild= | + | |GenomeBuild=38.1 |
| − | |dbSNPBuild= | + | |dbSNPBuild=141 |
| + | |Gene_s=SGSH | ||
| + | |StabilizedOrientation=minus | ||
}}{{omim | }}{{omim | ||
|id=605270 | |id=605270 | ||
| Line 27: | Line 29: | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x0502680c0a05040002110100 |
|GENEINFO=SGSH:6448 | |GENEINFO=SGSH:6448 | ||
|GENE_NAME=SGSH | |GENE_NAME=SGSH | ||
| Line 35: | Line 37: | ||
|CLNALLE=1 | |CLNALLE=1 | ||
|CLNHGVS=NC_000017.10:g.78184421C>T | |CLNHGVS=NC_000017.10:g.78184421C>T | ||
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=HGMD; OMIM Allelic Variant; UniProtKB (protein) |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=605270.0006 | + | |CLNSRCID=CM971373; 605270.0006; P51688#VAR_007423 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0086647 | |CLNCUI=C0086647 | ||
| − | |CLNDBN=Mucopolysaccharidosis, MPS-III-A | + | |CLNDBN=Mucopolysaccharidosis, MPS-III-A; not specified; Sanfilippo syndrome; not provided |
| − | |Disease=Mucopolysaccharidosis | + | |Disease=Mucopolysaccharidosis; not specified; Sanfilippo syndrome; not provided |
| − | |CLNACC=RCV000005421.1 | + | |CLNACC=RCV000005421.4; RCV000153943.3; RCV000351557.1; RCV000413635.1 |
| − | |Tags=RV;PM;S3D;NSM;REF; | + | |Tags=RV;PM;PMC;S3D;NSM;REF;INT;R3;ASP;VLD;LSD;OM |
| − | |CLNDSDB= | + | |CLNDSDB=MedGen:OMIM:SNOMED_CT; MedGen; MedGen:SNOMED_CT |
| − | |CLNDSDBID= | + | |CLNDSDBID=C0086647:252900:41572006; CN169374; C0026706:88393000; CN221809 |
| + | |CLNREVSTAT=no_criteria; single | ||
}} | }} | ||
| + | |||
| + | {{on chip | Ancestry v2}} | ||
| + | {{on chip | Ancestry v2d}} | ||
Latest revision as of 09:55, 7 December 2019
| 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 not specified Sanfilippo syndrome not provided |
| Variation | info |
| Gene | SGSH |
| CLNDBN | Mucopolysaccharidosis, MPS-III-A not specified Sanfilippo syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.78184421C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005421.4, RCV000153943.3, RCV000351557.1, RCV000413635.1, |
