rs58536923
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs58536923(A;G) |
Make rs58536923(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44911743 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs58536923 |
dbSNP (classic) | rs58536923 |
ClinGen | rs58536923 |
ebi | rs58536923 |
HLI | rs58536923 |
Exac | rs58536923 |
Gnomad | rs58536923 |
Varsome | rs58536923 |
LitVar | rs58536923 |
Map | rs58536923 |
PheGenI | rs58536923 |
Biobank | rs58536923 |
1000 genomes | rs58536923 |
hgdp | rs58536923 |
ensembl | rs58536923 |
geneview | rs58536923 |
scholar | rs58536923 |
rs58536923 | |
pharmgkb | rs58536923 |
gwascentral | rs58536923 |
openSNP | rs58536923 |
23andMe | rs58536923 |
SNPshot | rs58536923 |
SNPdbe | rs58536923 |
MSV3d | rs58536923 |
GWAS Ctlg | rs58536923 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58536923(G;G) |
Alt | rs58536923(G;G) |
Reference | Rs58536923(A;A) |
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.42989111T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056911.1, RCV000192149.1, |