rs76091978
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs76091978(C;T) |
Make rs76091978(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 65720363 |
Gene | RNASEH2C |
is a | snp |
is | mentioned by |
dbSNP | rs76091978 |
dbSNP (classic) | rs76091978 |
ClinGen | rs76091978 |
ebi | rs76091978 |
HLI | rs76091978 |
Exac | rs76091978 |
Gnomad | rs76091978 |
Varsome | rs76091978 |
LitVar | rs76091978 |
Map | rs76091978 |
PheGenI | rs76091978 |
Biobank | rs76091978 |
1000 genomes | rs76091978 |
hgdp | rs76091978 |
ensembl | rs76091978 |
geneview | rs76091978 |
scholar | rs76091978 |
rs76091978 | |
pharmgkb | rs76091978 |
gwascentral | rs76091978 |
openSNP | rs76091978 |
23andMe | rs76091978 |
SNPshot | rs76091978 |
SNPdbe | rs76091978 |
MSV3d | rs76091978 |
GWAS Ctlg | rs76091978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76091978(T;T) |
Alt | rs76091978(T;T) |
Reference | Rs76091978(C;C) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 3 |
Variation | info |
Gene | RNASEH2C |
CLNDBN | Aicardi Goutieres syndrome 3 |
Reversed | 1 |
HGVS | NC_000011.9:g.65487834G>A |
CLNSRC | |
CLNACC |