rs59568967
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs59568967(C;C) |
Make rs59568967(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44915197 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs59568967 |
dbSNP (classic) | rs59568967 |
ClinGen | rs59568967 |
ebi | rs59568967 |
HLI | rs59568967 |
Exac | rs59568967 |
Gnomad | rs59568967 |
Varsome | rs59568967 |
LitVar | rs59568967 |
Map | rs59568967 |
PheGenI | rs59568967 |
Biobank | rs59568967 |
1000 genomes | rs59568967 |
hgdp | rs59568967 |
ensembl | rs59568967 |
geneview | rs59568967 |
scholar | rs59568967 |
rs59568967 | |
pharmgkb | rs59568967 |
gwascentral | rs59568967 |
openSNP | rs59568967 |
23andMe | rs59568967 |
SNPshot | rs59568967 |
SNPdbe | rs59568967 |
MSV3d | rs59568967 |
GWAS Ctlg | rs59568967 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59568967(C;C) |
Alt | rs59568967(C;C) |
Reference | Rs59568967(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.42992565A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056881.1, RCV000192122.1, |