rs77931005
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs77931005(A;G) |
Make rs77931005(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 50930695 |
Gene | RNASEH2B |
is a | snp |
is | mentioned by |
dbSNP | rs77931005 |
dbSNP (classic) | rs77931005 |
ClinGen | rs77931005 |
ebi | rs77931005 |
HLI | rs77931005 |
Exac | rs77931005 |
Gnomad | rs77931005 |
Varsome | rs77931005 |
LitVar | rs77931005 |
Map | rs77931005 |
PheGenI | rs77931005 |
Biobank | rs77931005 |
1000 genomes | rs77931005 |
hgdp | rs77931005 |
ensembl | rs77931005 |
geneview | rs77931005 |
scholar | rs77931005 |
rs77931005 | |
pharmgkb | rs77931005 |
gwascentral | rs77931005 |
openSNP | rs77931005 |
23andMe | rs77931005 |
SNPshot | rs77931005 |
SNPdbe | rs77931005 |
MSV3d | rs77931005 |
GWAS Ctlg | rs77931005 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77931005(G;G) |
Alt | rs77931005(G;G) |
Reference | Rs77931005(A;A) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 2 |
Variation | info |
Gene | RNASEH2B |
CLNDBN | Aicardi Goutieres syndrome 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.51504831A>G |
CLNSRC | |
CLNACC |