rs79310911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79310911(C;T) |
Make rs79310911(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50943372 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs79310911 |
dbSNP (classic) | rs79310911 |
ClinGen | rs79310911 |
ebi | rs79310911 |
HLI | rs79310911 |
Exac | rs79310911 |
Gnomad | rs79310911 |
Varsome | rs79310911 |
LitVar | rs79310911 |
Map | rs79310911 |
PheGenI | rs79310911 |
Biobank | rs79310911 |
1000 genomes | rs79310911 |
hgdp | rs79310911 |
ensembl | rs79310911 |
geneview | rs79310911 |
scholar | rs79310911 |
rs79310911 | |
pharmgkb | rs79310911 |
gwascentral | rs79310911 |
openSNP | rs79310911 |
23andMe | rs79310911 |
SNPshot | rs79310911 |
SNPdbe | rs79310911 |
MSV3d | rs79310911 |
GWAS Ctlg | rs79310911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79310911(T;T) |
Alt | rs79310911(T;T) |
Reference | Rs79310911(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.51517508C>T |
CLNSRC | |
CLNACC |