rs56679084
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs56679084(C;C) |
Make rs56679084(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44913382 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs56679084 |
dbSNP (classic) | rs56679084 |
ClinGen | rs56679084 |
ebi | rs56679084 |
HLI | rs56679084 |
Exac | rs56679084 |
Gnomad | rs56679084 |
Varsome | rs56679084 |
LitVar | rs56679084 |
Map | rs56679084 |
PheGenI | rs56679084 |
Biobank | rs56679084 |
1000 genomes | rs56679084 |
hgdp | rs56679084 |
ensembl | rs56679084 |
geneview | rs56679084 |
scholar | rs56679084 |
rs56679084 | |
pharmgkb | rs56679084 |
gwascentral | rs56679084 |
openSNP | rs56679084 |
23andMe | rs56679084 |
SNPshot | rs56679084 |
SNPdbe | rs56679084 |
MSV3d | rs56679084 |
GWAS Ctlg | rs56679084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56679084(C;C) |
Alt | rs56679084(C;C) |
Reference | Rs56679084(G;G) |
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.42990750C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056895.1, RCV000192110.1, RCV000192131.1, |