rs79367981
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs79367981(A;A) |
Make rs79367981(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50910141 |
Gene | RNASEH2B, RNASEH2B-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs79367981 |
dbSNP (classic) | rs79367981 |
ClinGen | rs79367981 |
ebi | rs79367981 |
HLI | rs79367981 |
Exac | rs79367981 |
Gnomad | rs79367981 |
Varsome | rs79367981 |
LitVar | rs79367981 |
Map | rs79367981 |
PheGenI | rs79367981 |
Biobank | rs79367981 |
1000 genomes | rs79367981 |
hgdp | rs79367981 |
ensembl | rs79367981 |
geneview | rs79367981 |
scholar | rs79367981 |
rs79367981 | |
pharmgkb | rs79367981 |
gwascentral | rs79367981 |
openSNP | rs79367981 |
23andMe | rs79367981 |
SNPshot | rs79367981 |
SNPdbe | rs79367981 |
MSV3d | rs79367981 |
GWAS Ctlg | rs79367981 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79367981(A;A) |
Alt | rs79367981(A;A) |
Reference | Rs79367981(G;G) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 2 |
Variation | info |
Gene | RNASEH2B RNASEH2B-AS1 |
CLNDBN | Aicardi Goutieres syndrome 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.51484277G>A |
CLNSRC | |
CLNACC |