rs75325951
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs75325951(G;G) |
Make rs75325951(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50929517 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs75325951 |
dbSNP (classic) | rs75325951 |
ClinGen | rs75325951 |
ebi | rs75325951 |
HLI | rs75325951 |
Exac | rs75325951 |
Gnomad | rs75325951 |
Varsome | rs75325951 |
LitVar | rs75325951 |
Map | rs75325951 |
PheGenI | rs75325951 |
Biobank | rs75325951 |
1000 genomes | rs75325951 |
hgdp | rs75325951 |
ensembl | rs75325951 |
geneview | rs75325951 |
scholar | rs75325951 |
rs75325951 | |
pharmgkb | rs75325951 |
gwascentral | rs75325951 |
openSNP | rs75325951 |
23andMe | rs75325951 |
SNPshot | rs75325951 |
SNPdbe | rs75325951 |
MSV3d | rs75325951 |
GWAS Ctlg | rs75325951 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75325951(G;G) |
Alt | rs75325951(G;G) |
Reference | Rs75325951(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.51503653T>G |
CLNSRC | |
CLNACC |