rs398123529
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123529(-;-) |
Make rs398123529(-;G) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 1 |
Position | 155238618 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs398123529 |
dbSNP (classic) | rs398123529 |
ClinGen | rs398123529 |
ebi | rs398123529 |
HLI | rs398123529 |
Exac | rs398123529 |
Gnomad | rs398123529 |
Varsome | rs398123529 |
LitVar | rs398123529 |
Map | rs398123529 |
PheGenI | rs398123529 |
Biobank | rs398123529 |
1000 genomes | rs398123529 |
hgdp | rs398123529 |
ensembl | rs398123529 |
geneview | rs398123529 |
scholar | rs398123529 |
rs398123529 | |
pharmgkb | rs398123529 |
gwascentral | rs398123529 |
openSNP | rs398123529 |
23andMe | rs398123529 |
SNPshot | rs398123529 |
SNPdbe | rs398123529 |
MSV3d | rs398123529 |
GWAS Ctlg | rs398123529 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123529(-;-) |
Alt | rs398123529(-;-) |
Reference | Rs398123529(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.155208409delC |
CLNSRC | ClinVar |
CLNACC | RCV000079346.3, RCV000179354.1, |