rs79843600
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79843600(C;T) |
Make rs79843600(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12813164 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs79843600 |
dbSNP (classic) | rs79843600 |
ClinGen | rs79843600 |
ebi | rs79843600 |
HLI | rs79843600 |
Exac | rs79843600 |
Gnomad | rs79843600 |
Varsome | rs79843600 |
LitVar | rs79843600 |
Map | rs79843600 |
PheGenI | rs79843600 |
Biobank | rs79843600 |
1000 genomes | rs79843600 |
hgdp | rs79843600 |
ensembl | rs79843600 |
geneview | rs79843600 |
scholar | rs79843600 |
rs79843600 | |
pharmgkb | rs79843600 |
gwascentral | rs79843600 |
openSNP | rs79843600 |
23andMe | rs79843600 |
SNPshot | rs79843600 |
SNPdbe | rs79843600 |
MSV3d | rs79843600 |
GWAS Ctlg | rs79843600 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79843600(G;G) rs79843600(T;T) |
Alt | rs79843600(G;G) rs79843600(T;T) |
Reference | Rs79843600(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.12923978C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000114341.2, |