rs111549748
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111549748(C;C) |
Make rs111549748(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 624528 |
Gene | SHOX |
is a | snp |
is | mentioned by |
dbSNP | rs111549748 |
dbSNP (classic) | rs111549748 |
ClinGen | rs111549748 |
ebi | rs111549748 |
HLI | rs111549748 |
Exac | rs111549748 |
Gnomad | rs111549748 |
Varsome | rs111549748 |
LitVar | rs111549748 |
Map | rs111549748 |
PheGenI | rs111549748 |
Biobank | rs111549748 |
1000 genomes | rs111549748 |
hgdp | rs111549748 |
ensembl | rs111549748 |
geneview | rs111549748 |
scholar | rs111549748 |
rs111549748 | |
pharmgkb | rs111549748 |
gwascentral | rs111549748 |
openSNP | rs111549748 |
23andMe | rs111549748 |
SNPshot | rs111549748 |
SNPdbe | rs111549748 |
MSV3d | rs111549748 |
GWAS Ctlg | rs111549748 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111549748(C;C) |
Alt | rs111549748(C;C) |
Reference | Rs111549748(G;G) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | SHOX |
CLNDBN | Short stature, idiopathic, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.585263G>C |
CLNSRC | |
CLNACC | RCV000190323.1, |