rs267607504
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607504(C;C) |
Make rs267607504(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44915266 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs267607504 |
dbSNP (classic) | rs267607504 |
ClinGen | rs267607504 |
ebi | rs267607504 |
HLI | rs267607504 |
Exac | rs267607504 |
Gnomad | rs267607504 |
Varsome | rs267607504 |
LitVar | rs267607504 |
Map | rs267607504 |
PheGenI | rs267607504 |
Biobank | rs267607504 |
1000 genomes | rs267607504 |
hgdp | rs267607504 |
ensembl | rs267607504 |
geneview | rs267607504 |
scholar | rs267607504 |
rs267607504 | |
pharmgkb | rs267607504 |
gwascentral | rs267607504 |
openSNP | rs267607504 |
23andMe | rs267607504 |
SNPshot | rs267607504 |
SNPdbe | rs267607504 |
MSV3d | rs267607504 |
GWAS Ctlg | rs267607504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607504(C;C) |
Alt | rs267607504(C;C) |
Reference | Rs267607504(T;T) |
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.42992634A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056861.1, RCV000192102.1, |