rs587779404
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587779404(C;C) |
Make rs587779404(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 33051791 |
Gene | GLB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587779404 |
dbSNP (classic) | rs587779404 |
ClinGen | rs587779404 |
ebi | rs587779404 |
HLI | rs587779404 |
Exac | rs587779404 |
Gnomad | rs587779404 |
Varsome | rs587779404 |
LitVar | rs587779404 |
Map | rs587779404 |
PheGenI | rs587779404 |
Biobank | rs587779404 |
1000 genomes | rs587779404 |
hgdp | rs587779404 |
ensembl | rs587779404 |
geneview | rs587779404 |
scholar | rs587779404 |
rs587779404 | |
pharmgkb | rs587779404 |
gwascentral | rs587779404 |
openSNP | rs587779404 |
23andMe | rs587779404 |
SNPshot | rs587779404 |
SNPdbe | rs587779404 |
MSV3d | rs587779404 |
GWAS Ctlg | rs587779404 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779404(C;C) |
Alt | rs587779404(C;C) |
Reference | Rs587779404(T;T) |
Significance | Pathogenic |
Disease | Infantile GM1 gangliosidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | Infantile GM1 gangliosidosis |
Reversed | 1 |
HGVS | NC_000003.11:g.33093283A>G |
CLNSRC | |
CLNACC | RCV000087093.1, |