rs398122813
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
(GGA;GGA) | 0 | common/normal |
Make rs398122813(-;-) |
Make rs398122813(-;GGA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 20194216 |
Gene | RPS6KA3 |
is a | snp |
is | mentioned by |
dbSNP | rs398122813 |
dbSNP (classic) | rs398122813 |
ClinGen | rs398122813 |
ebi | rs398122813 |
HLI | rs398122813 |
Exac | rs398122813 |
Gnomad | rs398122813 |
Varsome | rs398122813 |
LitVar | rs398122813 |
Map | rs398122813 |
PheGenI | rs398122813 |
Biobank | rs398122813 |
1000 genomes | rs398122813 |
hgdp | rs398122813 |
ensembl | rs398122813 |
geneview | rs398122813 |
scholar | rs398122813 |
rs398122813 | |
pharmgkb | rs398122813 |
gwascentral | rs398122813 |
openSNP | rs398122813 |
23andMe | rs398122813 |
SNPshot | rs398122813 |
SNPdbe | rs398122813 |
MSV3d | rs398122813 |
GWAS Ctlg | rs398122813 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122813(-;-) |
Alt | rs398122813(-;-) |
Reference | Rs398122813(GAG;GAG) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | RPS6KA3 |
CLNDBN | Mental retardation, X-linked 19 |
Reversed | 1 |
HGVS | NC_000023.10:g.20212334_20212336delTCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022822.23, |