rs748860341
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748860341(C;G) |
Make rs748860341(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44910143 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs748860341 |
dbSNP (classic) | rs748860341 |
ClinGen | rs748860341 |
ebi | rs748860341 |
HLI | rs748860341 |
Exac | rs748860341 |
Gnomad | rs748860341 |
Varsome | rs748860341 |
LitVar | rs748860341 |
Map | rs748860341 |
PheGenI | rs748860341 |
Biobank | rs748860341 |
1000 genomes | rs748860341 |
hgdp | rs748860341 |
ensembl | rs748860341 |
geneview | rs748860341 |
scholar | rs748860341 |
rs748860341 | |
pharmgkb | rs748860341 |
gwascentral | rs748860341 |
openSNP | rs748860341 |
23andMe | rs748860341 |
SNPshot | rs748860341 |
SNPdbe | rs748860341 |
MSV3d | rs748860341 |
GWAS Ctlg | rs748860341 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748860341(G;G) rs748860341(T;T) |
Alt | rs748860341(G;G) rs748860341(T;T) |
Reference | Rs748860341(C;C) |
Significance | Pathogenic |
Disease | Alexander's disease not provided |
Variation | info |
Gene | GFAP |
CLNDBN | Alexander's disease not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.42987511C>T |
CLNSRC | |
CLNACC | RCV000192190.1, RCV000479024.1, |