rs794727908
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794727908(C;C) |
Make rs794727908(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 155237444 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs794727908 |
dbSNP (classic) | rs794727908 |
ClinGen | rs794727908 |
ebi | rs794727908 |
HLI | rs794727908 |
Exac | rs794727908 |
Gnomad | rs794727908 |
Varsome | rs794727908 |
LitVar | rs794727908 |
Map | rs794727908 |
PheGenI | rs794727908 |
Biobank | rs794727908 |
1000 genomes | rs794727908 |
hgdp | rs794727908 |
ensembl | rs794727908 |
geneview | rs794727908 |
scholar | rs794727908 |
rs794727908 | |
pharmgkb | rs794727908 |
gwascentral | rs794727908 |
openSNP | rs794727908 |
23andMe | rs794727908 |
SNPshot | rs794727908 |
SNPdbe | rs794727908 |
MSV3d | rs794727908 |
GWAS Ctlg | rs794727908 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727908(C;C) |
Alt | rs794727908(C;C) |
Reference | Rs794727908(T;T) |
Significance | Probable-Pathogenic |
Disease | Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | Gaucher's disease, type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.155207235A>G |
CLNSRC | |
CLNACC | RCV000180196.1, |