rs60449251
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs60449251(G;G) |
Make rs60449251(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44915227 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs60449251 |
dbSNP (classic) | rs60449251 |
ClinGen | rs60449251 |
ebi | rs60449251 |
HLI | rs60449251 |
Exac | rs60449251 |
Gnomad | rs60449251 |
Varsome | rs60449251 |
LitVar | rs60449251 |
Map | rs60449251 |
PheGenI | rs60449251 |
Biobank | rs60449251 |
1000 genomes | rs60449251 |
hgdp | rs60449251 |
ensembl | rs60449251 |
geneview | rs60449251 |
scholar | rs60449251 |
rs60449251 | |
pharmgkb | rs60449251 |
gwascentral | rs60449251 |
openSNP | rs60449251 |
23andMe | rs60449251 |
SNPshot | rs60449251 |
SNPdbe | rs60449251 |
MSV3d | rs60449251 |
GWAS Ctlg | rs60449251 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60449251(G;G) |
Alt | rs60449251(G;G) |
Reference | Rs60449251(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.42992595A>C |
CLNSRC | |
CLNACC | RCV000056877.1, RCV000192119.1, |