rs1064644
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a Gaucher disease mutation |
| (T;T) | 0 | common in clinvar |
| Make rs1064644(C;C) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 1 |
| Position | 155238192 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1064644 |
| dbSNP (classic) | rs1064644 |
| ClinGen | rs1064644 |
| ebi | rs1064644 |
| HLI | rs1064644 |
| Exac | rs1064644 |
| Gnomad | rs1064644 |
| Varsome | rs1064644 |
| LitVar | rs1064644 |
| Map | rs1064644 |
| PheGenI | rs1064644 |
| Biobank | rs1064644 |
| 1000 genomes | rs1064644 |
| hgdp | rs1064644 |
| ensembl | rs1064644 |
| geneview | rs1064644 |
| scholar | rs1064644 |
| rs1064644 | |
| pharmgkb | rs1064644 |
| gwascentral | rs1064644 |
| openSNP | rs1064644 |
| 23andMe | rs1064644 |
| SNPshot | rs1064644 |
| SNPdbe | rs1064644 |
| MSV3d | rs1064644 |
| GWAS Ctlg | rs1064644 |
| Max Magnitude | 3 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1064644(C;C) |
| Alt | rs1064644(C;C) |
| Reference | Rs1064644(T;T) |
| Significance | Pathogenic |
| Disease | Gaucher disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher disease |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155207983A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020157.1, |
[PMID 10685993
] Type 2 Gaucher disease: the collodion baby phenotype revisited.
