rs76158094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs76158094(A;A) |
Make rs76158094(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50930685 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs76158094 |
dbSNP (classic) | rs76158094 |
ClinGen | rs76158094 |
ebi | rs76158094 |
HLI | rs76158094 |
Exac | rs76158094 |
Gnomad | rs76158094 |
Varsome | rs76158094 |
LitVar | rs76158094 |
Map | rs76158094 |
PheGenI | rs76158094 |
Biobank | rs76158094 |
1000 genomes | rs76158094 |
hgdp | rs76158094 |
ensembl | rs76158094 |
geneview | rs76158094 |
scholar | rs76158094 |
rs76158094 | |
pharmgkb | rs76158094 |
gwascentral | rs76158094 |
openSNP | rs76158094 |
23andMe | rs76158094 |
SNPshot | rs76158094 |
SNPdbe | rs76158094 |
MSV3d | rs76158094 |
GWAS Ctlg | rs76158094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76158094(A;A) |
Alt | rs76158094(A;A) |
Reference | Rs76158094(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.51504821G>A |
CLNSRC | |
CLNACC |