rs79564863
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79564863(A;A) |
Make rs79564863(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50927470 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs79564863 |
dbSNP (classic) | rs79564863 |
ClinGen | rs79564863 |
ebi | rs79564863 |
HLI | rs79564863 |
Exac | rs79564863 |
Gnomad | rs79564863 |
Varsome | rs79564863 |
LitVar | rs79564863 |
Map | rs79564863 |
PheGenI | rs79564863 |
Biobank | rs79564863 |
1000 genomes | rs79564863 |
hgdp | rs79564863 |
ensembl | rs79564863 |
geneview | rs79564863 |
scholar | rs79564863 |
rs79564863 | |
pharmgkb | rs79564863 |
gwascentral | rs79564863 |
openSNP | rs79564863 |
23andMe | rs79564863 |
SNPshot | rs79564863 |
SNPdbe | rs79564863 |
MSV3d | rs79564863 |
GWAS Ctlg | rs79564863 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79564863(A;A) |
Alt | rs79564863(A;A) |
Reference | Rs79564863(C;C) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 2 |
Variation | info |
Gene | RNASEH2B |
CLNDBN | Aicardi Goutieres syndrome 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.51501606C>A |
CLNSRC | |
CLNACC |