rs80087649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80087649(G;T) |
Make rs80087649(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50935000 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs80087649 |
dbSNP (classic) | rs80087649 |
ClinGen | rs80087649 |
ebi | rs80087649 |
HLI | rs80087649 |
Exac | rs80087649 |
Gnomad | rs80087649 |
Varsome | rs80087649 |
LitVar | rs80087649 |
Map | rs80087649 |
PheGenI | rs80087649 |
Biobank | rs80087649 |
1000 genomes | rs80087649 |
hgdp | rs80087649 |
ensembl | rs80087649 |
geneview | rs80087649 |
scholar | rs80087649 |
rs80087649 | |
pharmgkb | rs80087649 |
gwascentral | rs80087649 |
openSNP | rs80087649 |
23andMe | rs80087649 |
SNPshot | rs80087649 |
SNPdbe | rs80087649 |
MSV3d | rs80087649 |
GWAS Ctlg | rs80087649 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80087649(T;T) |
Alt | rs80087649(T;T) |
Reference | Rs80087649(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.51509136G>T |
CLNSRC | |
CLNACC |