rs75328625
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75328625(A;A) |
Make rs75328625(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 65720721 |
Gene | RNASEH2C |
is a | snp |
is | mentioned by |
dbSNP | rs75328625 |
dbSNP (classic) | rs75328625 |
ClinGen | rs75328625 |
ebi | rs75328625 |
HLI | rs75328625 |
Exac | rs75328625 |
Gnomad | rs75328625 |
Varsome | rs75328625 |
LitVar | rs75328625 |
Map | rs75328625 |
PheGenI | rs75328625 |
Biobank | rs75328625 |
1000 genomes | rs75328625 |
hgdp | rs75328625 |
ensembl | rs75328625 |
geneview | rs75328625 |
scholar | rs75328625 |
rs75328625 | |
pharmgkb | rs75328625 |
gwascentral | rs75328625 |
openSNP | rs75328625 |
23andMe | rs75328625 |
SNPshot | rs75328625 |
SNPdbe | rs75328625 |
MSV3d | rs75328625 |
GWAS Ctlg | rs75328625 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75328625(A;A) |
Alt | rs75328625(A;A) |
Reference | Rs75328625(G;G) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 3 |
Variation | info |
Gene | RNASEH2C |
CLNDBN | Aicardi Goutieres syndrome 3 |
Reversed | 1 |
HGVS | NC_000011.9:g.65488192C>T |
CLNSRC | |
CLNACC |