rs79767407
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79767407(A;A) |
Make rs79767407(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12813135 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs79767407 |
dbSNP (classic) | rs79767407 |
ClinGen | rs79767407 |
ebi | rs79767407 |
HLI | rs79767407 |
Exac | rs79767407 |
Gnomad | rs79767407 |
Varsome | rs79767407 |
LitVar | rs79767407 |
Map | rs79767407 |
PheGenI | rs79767407 |
Biobank | rs79767407 |
1000 genomes | rs79767407 |
hgdp | rs79767407 |
ensembl | rs79767407 |
geneview | rs79767407 |
scholar | rs79767407 |
rs79767407 | |
pharmgkb | rs79767407 |
gwascentral | rs79767407 |
openSNP | rs79767407 |
23andMe | rs79767407 |
SNPshot | rs79767407 |
SNPdbe | rs79767407 |
MSV3d | rs79767407 |
GWAS Ctlg | rs79767407 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79767407(A;A) |
Alt | rs79767407(A;A) |
Reference | Rs79767407(C;C) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 4 |
Variation | info |
Gene | RNASEH2A |
CLNDBN | Aicardi Goutieres syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.12923949C>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000114339.2, |