rs367968666
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs367968666(A;C) |
Make rs367968666(C;C) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 1 |
Position | 155237458 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs367968666 |
dbSNP (classic) | rs367968666 |
ClinGen | rs367968666 |
ebi | rs367968666 |
HLI | rs367968666 |
Exac | rs367968666 |
Gnomad | rs367968666 |
Varsome | rs367968666 |
LitVar | rs367968666 |
Map | rs367968666 |
PheGenI | rs367968666 |
Biobank | rs367968666 |
1000 genomes | rs367968666 |
hgdp | rs367968666 |
ensembl | rs367968666 |
geneview | rs367968666 |
scholar | rs367968666 |
rs367968666 | |
pharmgkb | rs367968666 |
gwascentral | rs367968666 |
openSNP | rs367968666 |
23andMe | rs367968666 |
SNPshot | rs367968666 |
SNPdbe | rs367968666 |
MSV3d | rs367968666 |
GWAS Ctlg | rs367968666 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367968666(C;C) |
Alt | rs367968666(C;C) |
Reference | Rs367968666(A;A) |
Significance | Pathogenic |
Disease | Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease |
Reversed | 0 |
HGVS | NC_000001.10:g.155207249A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004580.3, RCV000004581.3, |