rs75186889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75186889(-;-) |
Make rs75186889(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50927479 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs75186889 |
dbSNP (classic) | rs75186889 |
ClinGen | rs75186889 |
ebi | rs75186889 |
HLI | rs75186889 |
Exac | rs75186889 |
Gnomad | rs75186889 |
Varsome | rs75186889 |
LitVar | rs75186889 |
Map | rs75186889 |
PheGenI | rs75186889 |
Biobank | rs75186889 |
1000 genomes | rs75186889 |
hgdp | rs75186889 |
ensembl | rs75186889 |
geneview | rs75186889 |
scholar | rs75186889 |
rs75186889 | |
pharmgkb | rs75186889 |
gwascentral | rs75186889 |
openSNP | rs75186889 |
23andMe | rs75186889 |
SNPshot | rs75186889 |
SNPdbe | rs75186889 |
MSV3d | rs75186889 |
GWAS Ctlg | rs75186889 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs75186889(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.51501615delG |
CLNSRC | |
CLNACC |