rs58008462
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs58008462(C;C) |
Make rs58008462(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44911267 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs58008462 |
dbSNP (classic) | rs58008462 |
ClinGen | rs58008462 |
ebi | rs58008462 |
HLI | rs58008462 |
Exac | rs58008462 |
Gnomad | rs58008462 |
Varsome | rs58008462 |
LitVar | rs58008462 |
Map | rs58008462 |
PheGenI | rs58008462 |
Biobank | rs58008462 |
1000 genomes | rs58008462 |
hgdp | rs58008462 |
ensembl | rs58008462 |
geneview | rs58008462 |
scholar | rs58008462 |
rs58008462 | |
pharmgkb | rs58008462 |
gwascentral | rs58008462 |
openSNP | rs58008462 |
23andMe | rs58008462 |
SNPshot | rs58008462 |
SNPdbe | rs58008462 |
MSV3d | rs58008462 |
GWAS Ctlg | rs58008462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58008462(C;C) |
Alt | rs58008462(C;C) |
Reference | Rs58008462(T;T) |
Significance | Pathogenic |
Disease | not provided Alexander's disease |
Variation | info |
Gene | GFAP |
CLNDBN | not provided Alexander's disease |
Reversed | 1 |
HGVS | NC_000017.10:g.42988635A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056828.1, RCV000192167.1, |