rs60095124
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs60095124(A;C) |
Make rs60095124(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44915300 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs60095124 |
dbSNP (classic) | rs60095124 |
ClinGen | rs60095124 |
ebi | rs60095124 |
HLI | rs60095124 |
Exac | rs60095124 |
Gnomad | rs60095124 |
Varsome | rs60095124 |
LitVar | rs60095124 |
Map | rs60095124 |
PheGenI | rs60095124 |
Biobank | rs60095124 |
1000 genomes | rs60095124 |
hgdp | rs60095124 |
ensembl | rs60095124 |
geneview | rs60095124 |
scholar | rs60095124 |
rs60095124 | |
pharmgkb | rs60095124 |
gwascentral | rs60095124 |
openSNP | rs60095124 |
23andMe | rs60095124 |
SNPshot | rs60095124 |
SNPdbe | rs60095124 |
MSV3d | rs60095124 |
GWAS Ctlg | rs60095124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60095124(C;C) |
Alt | rs60095124(C;C) |
Reference | Rs60095124(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.42992668T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056854.1, RCV000192096.1, |