rs2071421
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 0 | Benign variant (on its own) |
| (G;G) | 0 | Benign variant (on its own) |
| (T;T) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50625988 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2071421 |
| dbSNP (classic) | rs2071421 |
| ClinGen | rs2071421 |
| ebi | rs2071421 |
| HLI | rs2071421 |
| Exac | rs2071421 |
| Gnomad | rs2071421 |
| Varsome | rs2071421 |
| LitVar | rs2071421 |
| Map | rs2071421 |
| PheGenI | rs2071421 |
| Biobank | rs2071421 |
| 1000 genomes | rs2071421 |
| hgdp | rs2071421 |
| ensembl | rs2071421 |
| geneview | rs2071421 |
| scholar | rs2071421 |
| rs2071421 | |
| pharmgkb | rs2071421 |
| gwascentral | rs2071421 |
| openSNP | rs2071421 |
| 23andMe | rs2071421 |
| SNPshot | rs2071421 |
| SNPdbe | rs2071421 |
| MSV3d | rs2071421 |
| GWAS Ctlg | rs2071421 |
| GMAF | 0.2094 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs2071421(G;G) |
| Alt | Rs2071421(G;G) |
| Reference | Rs2071421(A;A) |
| Significance | Other |
| Disease | ARYLSULFATASE A POLYMORPHISM Metachromatic leukodystrophy not provided not specified |
| Variation | info |
| Gene | ARSA |
| CLNDBN | ARYLSULFATASE A POLYMORPHISM Metachromatic leukodystrophy not provided not specified |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51064416T>C |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000003191.2, RCV000020310.3, RCV000078931.6, RCV000249834.1, |
[PMID 2574462
] Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
[PMID 9402957] Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
