rs74876702
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs74876702(A;A) |
Make rs74876702(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50927474 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs74876702 |
dbSNP (classic) | rs74876702 |
ClinGen | rs74876702 |
ebi | rs74876702 |
HLI | rs74876702 |
Exac | rs74876702 |
Gnomad | rs74876702 |
Varsome | rs74876702 |
LitVar | rs74876702 |
Map | rs74876702 |
PheGenI | rs74876702 |
Biobank | rs74876702 |
1000 genomes | rs74876702 |
hgdp | rs74876702 |
ensembl | rs74876702 |
geneview | rs74876702 |
scholar | rs74876702 |
rs74876702 | |
pharmgkb | rs74876702 |
gwascentral | rs74876702 |
openSNP | rs74876702 |
23andMe | rs74876702 |
SNPshot | rs74876702 |
SNPdbe | rs74876702 |
MSV3d | rs74876702 |
GWAS Ctlg | rs74876702 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74876702(A;A) |
Alt | rs74876702(A;A) |
Reference | Rs74876702(T;T) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 2 |
Variation | info |
Gene | RNASEH2B |
CLNDBN | Aicardi Goutieres syndrome 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.51501610T>A |
CLNSRC | |
CLNACC |