rs76436818
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs76436818(C;T) |
Make rs76436818(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12807328 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs76436818 |
dbSNP (classic) | rs76436818 |
ClinGen | rs76436818 |
ebi | rs76436818 |
HLI | rs76436818 |
Exac | rs76436818 |
Gnomad | rs76436818 |
Varsome | rs76436818 |
LitVar | rs76436818 |
Map | rs76436818 |
PheGenI | rs76436818 |
Biobank | rs76436818 |
1000 genomes | rs76436818 |
hgdp | rs76436818 |
ensembl | rs76436818 |
geneview | rs76436818 |
scholar | rs76436818 |
rs76436818 | |
pharmgkb | rs76436818 |
gwascentral | rs76436818 |
openSNP | rs76436818 |
23andMe | rs76436818 |
SNPshot | rs76436818 |
SNPdbe | rs76436818 |
MSV3d | rs76436818 |
GWAS Ctlg | rs76436818 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76436818(A;A) rs76436818(G;G) rs76436818(T;T) |
Alt | rs76436818(A;A) rs76436818(G;G) rs76436818(T;T) |
Reference | Rs76436818(C;C) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 4 |
Variation | info |
Gene | RNASEH2A |
CLNDBN | Aicardi Goutieres syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.12918142C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000114338.2, |