rs113313554
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113313554(A;A) |
Make rs113313554(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 624523 |
Gene | SHOX |
is a | snp |
is | mentioned by |
dbSNP | rs113313554 |
dbSNP (classic) | rs113313554 |
ClinGen | rs113313554 |
ebi | rs113313554 |
HLI | rs113313554 |
Exac | rs113313554 |
Gnomad | rs113313554 |
Varsome | rs113313554 |
LitVar | rs113313554 |
Map | rs113313554 |
PheGenI | rs113313554 |
Biobank | rs113313554 |
1000 genomes | rs113313554 |
hgdp | rs113313554 |
ensembl | rs113313554 |
geneview | rs113313554 |
scholar | rs113313554 |
rs113313554 | |
pharmgkb | rs113313554 |
gwascentral | rs113313554 |
openSNP | rs113313554 |
23andMe | rs113313554 |
SNPshot | rs113313554 |
SNPdbe | rs113313554 |
MSV3d | rs113313554 |
GWAS Ctlg | rs113313554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113313554(A;A) rs113313554(T;T) |
Alt | rs113313554(A;A) rs113313554(T;T) |
Reference | Rs113313554(C;C) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | SHOX |
CLNDBN | Short stature, idiopathic, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.585258C>A |
CLNSRC | |
CLNACC | RCV000190324.1, |