rs60551555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs60551555(G;G) |
Make rs60551555(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44913325 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs60551555 |
dbSNP (classic) | rs60551555 |
ClinGen | rs60551555 |
ebi | rs60551555 |
HLI | rs60551555 |
Exac | rs60551555 |
Gnomad | rs60551555 |
Varsome | rs60551555 |
LitVar | rs60551555 |
Map | rs60551555 |
PheGenI | rs60551555 |
Biobank | rs60551555 |
1000 genomes | rs60551555 |
hgdp | rs60551555 |
ensembl | rs60551555 |
geneview | rs60551555 |
scholar | rs60551555 |
rs60551555 | |
pharmgkb | rs60551555 |
gwascentral | rs60551555 |
openSNP | rs60551555 |
23andMe | rs60551555 |
SNPshot | rs60551555 |
SNPdbe | rs60551555 |
MSV3d | rs60551555 |
GWAS Ctlg | rs60551555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60551555(G;G) |
Alt | rs60551555(G;G) |
Reference | Rs60551555(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.42990693A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056902.1, RCV000192138.1, |