rs267607505
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267607505(A;G) |
Make rs267607505(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44913279 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs267607505 |
dbSNP (classic) | rs267607505 |
ClinGen | rs267607505 |
ebi | rs267607505 |
HLI | rs267607505 |
Exac | rs267607505 |
Gnomad | rs267607505 |
Varsome | rs267607505 |
LitVar | rs267607505 |
Map | rs267607505 |
PheGenI | rs267607505 |
Biobank | rs267607505 |
1000 genomes | rs267607505 |
hgdp | rs267607505 |
ensembl | rs267607505 |
geneview | rs267607505 |
scholar | rs267607505 |
rs267607505 | |
pharmgkb | rs267607505 |
gwascentral | rs267607505 |
openSNP | rs267607505 |
23andMe | rs267607505 |
SNPshot | rs267607505 |
SNPdbe | rs267607505 |
MSV3d | rs267607505 |
GWAS Ctlg | rs267607505 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607505(G;G) |
Alt | rs267607505(G;G) |
Reference | Rs267607505(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.42990647T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056907.1, RCV000192142.1, |