rs78635798
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs78635798(C;T) |
Make rs78635798(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 65720385 |
Gene | RNASEH2C |
is a | snp |
is | mentioned by |
dbSNP | rs78635798 |
dbSNP (classic) | rs78635798 |
ClinGen | rs78635798 |
ebi | rs78635798 |
HLI | rs78635798 |
Exac | rs78635798 |
Gnomad | rs78635798 |
Varsome | rs78635798 |
LitVar | rs78635798 |
Map | rs78635798 |
PheGenI | rs78635798 |
Biobank | rs78635798 |
1000 genomes | rs78635798 |
hgdp | rs78635798 |
ensembl | rs78635798 |
geneview | rs78635798 |
scholar | rs78635798 |
rs78635798 | |
pharmgkb | rs78635798 |
gwascentral | rs78635798 |
openSNP | rs78635798 |
23andMe | rs78635798 |
SNPshot | rs78635798 |
SNPdbe | rs78635798 |
MSV3d | rs78635798 |
GWAS Ctlg | rs78635798 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78635798(T;T) |
Alt | rs78635798(T;T) |
Reference | Rs78635798(C;C) |
Significance | Other |
Disease | Aicardi Goutieres syndrome 3 not provided |
Variation | info |
Gene | RNASEH2C |
CLNDBN | Aicardi Goutieres syndrome 3 not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.65487856G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001322.5, RCV000414153.1, |
[PMID 16845400] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.