rs776368825
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs776368825(A;A) |
Make rs776368825(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 87965592 |
Gene | GALC |
is a | snp |
is | mentioned by |
dbSNP | rs776368825 |
dbSNP (classic) | rs776368825 |
ClinGen | rs776368825 |
ebi | rs776368825 |
HLI | rs776368825 |
Exac | rs776368825 |
Gnomad | rs776368825 |
Varsome | rs776368825 |
LitVar | rs776368825 |
Map | rs776368825 |
PheGenI | rs776368825 |
Biobank | rs776368825 |
1000 genomes | rs776368825 |
hgdp | rs776368825 |
ensembl | rs776368825 |
geneview | rs776368825 |
scholar | rs776368825 |
rs776368825 | |
pharmgkb | rs776368825 |
gwascentral | rs776368825 |
openSNP | rs776368825 |
23andMe | rs776368825 |
SNPshot | rs776368825 |
SNPdbe | rs776368825 |
MSV3d | rs776368825 |
GWAS Ctlg | rs776368825 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776368825(A;A) rs776368825(T;T) |
Alt | rs776368825(A;A) rs776368825(T;T) |
Reference | Rs776368825(G;G) |
Significance | Probable-Pathogenic |
Disease | Galactosylceramide beta-galactosidase deficiency |
Variation | info |
Gene | GALC |
CLNDBN | Galactosylceramide beta-galactosidase deficiency |
Reversed | 0 |
HGVS | NC_000014.8:g.88431936G>A |
CLNSRC | |
CLNACC | RCV000411117.1, |