rs104886460
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 3 | Unaffected carrier of Gaucher disease variant |
| (T;T) | 7 | Gaucher disease |
| Reference | GRCh37.p2 37.2/134 |
| Chromosome | 1 |
| Position | 155240629 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104886460 |
| dbSNP (classic) | rs104886460 |
| ClinGen | rs104886460 |
| ebi | rs104886460 |
| HLI | rs104886460 |
| Exac | rs104886460 |
| Gnomad | rs104886460 |
| Varsome | rs104886460 |
| LitVar | rs104886460 |
| Map | rs104886460 |
| PheGenI | rs104886460 |
| Biobank | rs104886460 |
| 1000 genomes | rs104886460 |
| hgdp | rs104886460 |
| ensembl | rs104886460 |
| geneview | rs104886460 |
| scholar | rs104886460 |
| rs104886460 | |
| pharmgkb | rs104886460 |
| gwascentral | rs104886460 |
| openSNP | rs104886460 |
| 23andMe | rs104886460 |
| SNPshot | rs104886460 |
| SNPdbe | rs104886460 |
| MSV3d | rs104886460 |
| GWAS Ctlg | rs104886460 |
| Max Magnitude | 7 |
rs104886460 represents a rare variation in the acid beta-glucocerebrosidase (GBA) gene. Gaucher's disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase, and over 200 mutations have been described in the GBA gene, many of which lead to Gaucher Type I or Type II disease.
The mutation encoded by rs104886460 is one of the top 5 or so Gaucher-related variations found in Ashkenazi Jews, and is known as "IVS2+1G-A". It is most commonly associated with Gaucher Type I disease but has also been seen associated with Type II disease, apparently depending on the nature of the "other" GBA mutation found in an individual (since it's a recessive condition requiring both alleles to be affected).
See also: OMIM 606463.0015
| ClinVar | |
|---|---|
| Risk | rs104886460(A;A) Rs104886460(T;T) |
| Alt | rs104886460(A;A) Rs104886460(T;T) |
| Reference | Rs104886460(G;G) |
| Significance | Pathogenic |
| Disease | not provided Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | not provided Gaucher's disease, type 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155210420C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000079332.3, RCV000177098.2, |
