rs398123534
From SNPedia
Merged into | rs409652 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123534(A;A) |
Make rs398123534(A;G) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 1 |
Position | 155207965 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs398123534 |
dbSNP (classic) | rs398123534 |
ClinGen | rs398123534 |
ebi | rs398123534 |
HLI | rs398123534 |
Exac | rs398123534 |
Gnomad | rs398123534 |
Varsome | rs398123534 |
LitVar | rs398123534 |
Map | rs398123534 |
PheGenI | rs398123534 |
Biobank | rs398123534 |
1000 genomes | rs398123534 |
hgdp | rs398123534 |
ensembl | rs398123534 |
geneview | rs398123534 |
scholar | rs398123534 |
rs398123534 | |
pharmgkb | rs398123534 |
gwascentral | rs398123534 |
openSNP | rs398123534 |
23andMe | rs398123534 |
SNPshot | rs398123534 |
SNPdbe | rs398123534 |
MSV3d | rs398123534 |
GWAS Ctlg | rs398123534 |
Status | Merged into rs409652 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123534(A;A) |
Alt | rs398123534(A;A) |
Reference | Rs398123534(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.155207965C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000079354.3, RCV000179794.1, |