rs1065757
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1065757(A;A) |
| Make rs1065757(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 78885654 |
| Gene | ARSB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1065757 |
| dbSNP (classic) | rs1065757 |
| ClinGen | rs1065757 |
| ebi | rs1065757 |
| HLI | rs1065757 |
| Exac | rs1065757 |
| Gnomad | rs1065757 |
| Varsome | rs1065757 |
| LitVar | rs1065757 |
| Map | rs1065757 |
| PheGenI | rs1065757 |
| Biobank | rs1065757 |
| 1000 genomes | rs1065757 |
| hgdp | rs1065757 |
| ensembl | rs1065757 |
| geneview | rs1065757 |
| scholar | rs1065757 |
| rs1065757 | |
| pharmgkb | rs1065757 |
| gwascentral | rs1065757 |
| openSNP | rs1065757 |
| 23andMe | rs1065757 |
| SNPshot | rs1065757 |
| SNPdbe | rs1065757 |
| MSV3d | rs1065757 |
| GWAS Ctlg | rs1065757 |
| GMAF | 0.3398 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1065757(A;A) rs1065757(C;C) rs1065757(T;T) |
| Alt | rs1065757(A;A) rs1065757(C;C) rs1065757(T;T) |
| Reference | Rs1065757(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Mucopolysaccharidosis type VI |
| Variation | info |
| Gene | ARSB |
| CLNDBN | not specified Mucopolysaccharidosis type VI |
| Reversed | 1 |
| HGVS | NC_000005.9:g.78181477C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000077997.5, RCV000352809.1, |
