rs869320705
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869320705(C;T) |
Make rs869320705(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 20177017 |
Gene | RPS6KA3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320705 |
dbSNP (classic) | rs869320705 |
ClinGen | rs869320705 |
ebi | rs869320705 |
HLI | rs869320705 |
Exac | rs869320705 |
Gnomad | rs869320705 |
Varsome | rs869320705 |
LitVar | rs869320705 |
Map | rs869320705 |
PheGenI | rs869320705 |
Biobank | rs869320705 |
1000 genomes | rs869320705 |
hgdp | rs869320705 |
ensembl | rs869320705 |
geneview | rs869320705 |
scholar | rs869320705 |
rs869320705 | |
pharmgkb | rs869320705 |
gwascentral | rs869320705 |
openSNP | rs869320705 |
23andMe | rs869320705 |
SNPshot | rs869320705 |
SNPdbe | rs869320705 |
MSV3d | rs869320705 |
GWAS Ctlg | rs869320705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320705(T;T) |
Alt | rs869320705(T;T) |
Reference | Rs869320705(C;C) |
Significance | Pathogenic |
Disease | Coffin-Lowry syndrome |
Variation | info |
Gene | RPS6KA3 |
CLNDBN | Coffin-Lowry syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.20195135G>A |
CLNSRC | |
CLNACC | RCV000210889.1, |