rs1135675
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1135675(C;C) |
| Make rs1135675(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 155235203 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1135675 |
| dbSNP (classic) | rs1135675 |
| ClinGen | rs1135675 |
| ebi | rs1135675 |
| HLI | rs1135675 |
| Exac | rs1135675 |
| Gnomad | rs1135675 |
| Varsome | rs1135675 |
| LitVar | rs1135675 |
| Map | rs1135675 |
| PheGenI | rs1135675 |
| Biobank | rs1135675 |
| 1000 genomes | rs1135675 |
| hgdp | rs1135675 |
| ensembl | rs1135675 |
| geneview | rs1135675 |
| scholar | rs1135675 |
| rs1135675 | |
| pharmgkb | rs1135675 |
| gwascentral | rs1135675 |
| openSNP | rs1135675 |
| 23andMe | rs1135675 |
| SNPshot | rs1135675 |
| SNPdbe | rs1135675 |
| MSV3d | rs1135675 |
| GWAS Ctlg | rs1135675 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1135675(C;C) |
| Alt | rs1135675(C;C) |
| Reference | Rs1135675(G;G) |
| Significance | Other |
| Disease | Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease not specified |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155204994C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004533.5, RCV000004534.5, RCV000004535.5, RCV000004536.5, RCV000079342.5, |
