rs775277935
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs775277935(-;-) |
Make rs775277935(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 87986501 |
Gene | GALC |
is a | snp |
is | mentioned by |
dbSNP | rs775277935 |
dbSNP (classic) | rs775277935 |
ClinGen | rs775277935 |
ebi | rs775277935 |
HLI | rs775277935 |
Exac | rs775277935 |
Gnomad | rs775277935 |
Varsome | rs775277935 |
LitVar | rs775277935 |
Map | rs775277935 |
PheGenI | rs775277935 |
Biobank | rs775277935 |
1000 genomes | rs775277935 |
hgdp | rs775277935 |
ensembl | rs775277935 |
geneview | rs775277935 |
scholar | rs775277935 |
rs775277935 | |
pharmgkb | rs775277935 |
gwascentral | rs775277935 |
openSNP | rs775277935 |
23andMe | rs775277935 |
SNPshot | rs775277935 |
SNPdbe | rs775277935 |
MSV3d | rs775277935 |
GWAS Ctlg | rs775277935 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775277935(-;-) |
Alt | rs775277935(-;-) |
Reference | Rs775277935(T;T) |
Significance | Pathogenic |
Disease | Galactosylceramide beta-galactosidase deficiency not provided |
Variation | info |
Gene | GALC |
CLNDBN | Galactosylceramide beta-galactosidase deficiency not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.88452845delT |
CLNSRC | |
CLNACC | RCV000178046.1, RCV000255375.1, |