rs61726468
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61726468(C;C) |
Make rs61726468(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44913276 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs61726468 |
dbSNP (classic) | rs61726468 |
ClinGen | rs61726468 |
ebi | rs61726468 |
HLI | rs61726468 |
Exac | rs61726468 |
Gnomad | rs61726468 |
Varsome | rs61726468 |
LitVar | rs61726468 |
Map | rs61726468 |
PheGenI | rs61726468 |
Biobank | rs61726468 |
1000 genomes | rs61726468 |
hgdp | rs61726468 |
ensembl | rs61726468 |
geneview | rs61726468 |
scholar | rs61726468 |
rs61726468 | |
pharmgkb | rs61726468 |
gwascentral | rs61726468 |
openSNP | rs61726468 |
23andMe | rs61726468 |
SNPshot | rs61726468 |
SNPdbe | rs61726468 |
MSV3d | rs61726468 |
GWAS Ctlg | rs61726468 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61726468(A;A) rs61726468(C;C) |
Alt | rs61726468(A;A) rs61726468(C;C) |
Reference | Rs61726468(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.42990644C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056908.1, RCV000192144.1, |