rs797044569
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044569(A;A) |
Make rs797044569(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44915290 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs797044569 |
dbSNP (classic) | rs797044569 |
ClinGen | rs797044569 |
ebi | rs797044569 |
HLI | rs797044569 |
Exac | rs797044569 |
Gnomad | rs797044569 |
Varsome | rs797044569 |
LitVar | rs797044569 |
Map | rs797044569 |
PheGenI | rs797044569 |
Biobank | rs797044569 |
1000 genomes | rs797044569 |
hgdp | rs797044569 |
ensembl | rs797044569 |
geneview | rs797044569 |
scholar | rs797044569 |
rs797044569 | |
pharmgkb | rs797044569 |
gwascentral | rs797044569 |
openSNP | rs797044569 |
23andMe | rs797044569 |
SNPshot | rs797044569 |
SNPdbe | rs797044569 |
MSV3d | rs797044569 |
GWAS Ctlg | rs797044569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044569(A;A) rs797044569(C;C) |
Alt | rs797044569(A;A) rs797044569(C;C) |
Reference | Rs797044569(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.42992658C>G; NC_000017.10:g.42992658C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000413147.1, RCV000192097.1, |