rs144984628
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144984628(C;T) |
Make rs144984628(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 20155453 |
Gene | RPS6KA3 |
is a | snp |
is | mentioned by |
dbSNP | rs144984628 |
dbSNP (classic) | rs144984628 |
ClinGen | rs144984628 |
ebi | rs144984628 |
HLI | rs144984628 |
Exac | rs144984628 |
Gnomad | rs144984628 |
Varsome | rs144984628 |
LitVar | rs144984628 |
Map | rs144984628 |
PheGenI | rs144984628 |
Biobank | rs144984628 |
1000 genomes | rs144984628 |
hgdp | rs144984628 |
ensembl | rs144984628 |
geneview | rs144984628 |
scholar | rs144984628 |
rs144984628 | |
pharmgkb | rs144984628 |
gwascentral | rs144984628 |
openSNP | rs144984628 |
23andMe | rs144984628 |
SNPshot | rs144984628 |
SNPdbe | rs144984628 |
MSV3d | rs144984628 |
GWAS Ctlg | rs144984628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144984628(T;T) |
Alt | rs144984628(T;T) |
Reference | Rs144984628(C;C) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | RPS6KA3 |
CLNDBN | Mental retardation, X-linked 19 |
Reversed | 0 |
HGVS | NC_000023.10:g.20173571C>T |
CLNSRC | |
CLNACC | RCV000193624.1, |