rs78847362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs78847362(G;T) |
Make rs78847362(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50929583 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs78847362 |
dbSNP (classic) | rs78847362 |
ClinGen | rs78847362 |
ebi | rs78847362 |
HLI | rs78847362 |
Exac | rs78847362 |
Gnomad | rs78847362 |
Varsome | rs78847362 |
LitVar | rs78847362 |
Map | rs78847362 |
PheGenI | rs78847362 |
Biobank | rs78847362 |
1000 genomes | rs78847362 |
hgdp | rs78847362 |
ensembl | rs78847362 |
geneview | rs78847362 |
scholar | rs78847362 |
rs78847362 | |
pharmgkb | rs78847362 |
gwascentral | rs78847362 |
openSNP | rs78847362 |
23andMe | rs78847362 |
SNPshot | rs78847362 |
SNPdbe | rs78847362 |
MSV3d | rs78847362 |
GWAS Ctlg | rs78847362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78847362(A;A) rs78847362(T;T) |
Alt | rs78847362(A;A) rs78847362(T;T) |
Reference | Rs78847362(G;G) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 2 |
Variation | info |
Gene | RNASEH2B |
CLNDBN | Aicardi Goutieres syndrome 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.51503719G>T |
CLNSRC | |
CLNACC |