rs879253875
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879253875(A;A) |
Make rs879253875(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 9829502 |
Gene | GRIN2A |
is a | snp |
is | mentioned by |
dbSNP | rs879253875 |
dbSNP (classic) | rs879253875 |
ClinGen | rs879253875 |
ebi | rs879253875 |
HLI | rs879253875 |
Exac | rs879253875 |
Gnomad | rs879253875 |
Varsome | rs879253875 |
LitVar | rs879253875 |
Map | rs879253875 |
PheGenI | rs879253875 |
Biobank | rs879253875 |
1000 genomes | rs879253875 |
hgdp | rs879253875 |
ensembl | rs879253875 |
geneview | rs879253875 |
scholar | rs879253875 |
rs879253875 | |
pharmgkb | rs879253875 |
gwascentral | rs879253875 |
openSNP | rs879253875 |
23andMe | rs879253875 |
SNPshot | rs879253875 |
SNPdbe | rs879253875 |
MSV3d | rs879253875 |
GWAS Ctlg | rs879253875 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253875(A;A) |
Alt | rs879253875(A;A) |
Reference | Rs879253875(C;C) |
Significance | Probable-Pathogenic |
Disease | Dystonia |
Variation | info |
Gene | GRIN2A |
CLNDBN | Dystonia, intellectual disability and language impairment |
Reversed | 1 |
HGVS | NC_000016.9:g.9923359G>T |
CLNSRC | |
CLNACC | RCV000236367.1, |