rs147138516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147138516(C;G) |
Make rs147138516(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 155238570 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs147138516 |
dbSNP (classic) | rs147138516 |
ClinGen | rs147138516 |
ebi | rs147138516 |
HLI | rs147138516 |
Exac | rs147138516 |
Gnomad | rs147138516 |
Varsome | rs147138516 |
LitVar | rs147138516 |
Map | rs147138516 |
PheGenI | rs147138516 |
Biobank | rs147138516 |
1000 genomes | rs147138516 |
hgdp | rs147138516 |
ensembl | rs147138516 |
geneview | rs147138516 |
scholar | rs147138516 |
rs147138516 | |
pharmgkb | rs147138516 |
gwascentral | rs147138516 |
openSNP | rs147138516 |
23andMe | rs147138516 |
SNPshot | rs147138516 |
SNPdbe | rs147138516 |
MSV3d | rs147138516 |
GWAS Ctlg | rs147138516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147138516(G;G) |
Alt | rs147138516(G;G) |
Reference | Rs147138516(C;C) |
Significance | Pathogenic |
Disease | Gaucher's disease not provided |
Variation | info |
Gene | GBA |
CLNDBN | Gaucher's disease, type 1 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.155208361C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004538.5, RCV000487788.1, |