rs57590980
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs57590980(A;G) |
Make rs57590980(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44915257 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs57590980 |
dbSNP (classic) | rs57590980 |
ClinGen | rs57590980 |
ebi | rs57590980 |
HLI | rs57590980 |
Exac | rs57590980 |
Gnomad | rs57590980 |
Varsome | rs57590980 |
LitVar | rs57590980 |
Map | rs57590980 |
PheGenI | rs57590980 |
Biobank | rs57590980 |
1000 genomes | rs57590980 |
hgdp | rs57590980 |
ensembl | rs57590980 |
geneview | rs57590980 |
scholar | rs57590980 |
rs57590980 | |
pharmgkb | rs57590980 |
gwascentral | rs57590980 |
openSNP | rs57590980 |
23andMe | rs57590980 |
SNPshot | rs57590980 |
SNPdbe | rs57590980 |
MSV3d | rs57590980 |
GWAS Ctlg | rs57590980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57590980(G;G) |
Alt | rs57590980(G;G) |
Reference | Rs57590980(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.42992625T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056865.1, RCV000192107.1, |