rs112611995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs112611995(C;C) |
Make rs112611995(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44913433 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs112611995 |
dbSNP (classic) | rs112611995 |
ClinGen | rs112611995 |
ebi | rs112611995 |
HLI | rs112611995 |
Exac | rs112611995 |
Gnomad | rs112611995 |
Varsome | rs112611995 |
LitVar | rs112611995 |
Map | rs112611995 |
PheGenI | rs112611995 |
Biobank | rs112611995 |
1000 genomes | rs112611995 |
hgdp | rs112611995 |
ensembl | rs112611995 |
geneview | rs112611995 |
scholar | rs112611995 |
rs112611995 | |
pharmgkb | rs112611995 |
gwascentral | rs112611995 |
openSNP | rs112611995 |
23andMe | rs112611995 |
SNPshot | rs112611995 |
SNPdbe | rs112611995 |
MSV3d | rs112611995 |
GWAS Ctlg | rs112611995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112611995(C;C) |
Alt | rs112611995(C;C) |
Reference | Rs112611995(G;G) |
Significance | Pathogenic |
Disease | Alexander's disease |
Variation | info |
Gene | GFAP |
CLNDBN | Alexander's disease |
Reversed | 0 |
HGVS | NC_000017.10:g.42990801G>C |
CLNSRC | |
CLNACC | RCV000192191.1, |