rs137852558
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852558(G;T) |
Make rs137852558(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 634644 |
Gene | SHOX |
is a | snp |
is | mentioned by |
dbSNP | rs137852558 |
dbSNP (classic) | rs137852558 |
ClinGen | rs137852558 |
ebi | rs137852558 |
HLI | rs137852558 |
Exac | rs137852558 |
Gnomad | rs137852558 |
Varsome | rs137852558 |
LitVar | rs137852558 |
Map | rs137852558 |
PheGenI | rs137852558 |
Biobank | rs137852558 |
1000 genomes | rs137852558 |
hgdp | rs137852558 |
ensembl | rs137852558 |
geneview | rs137852558 |
scholar | rs137852558 |
rs137852558 | |
pharmgkb | rs137852558 |
gwascentral | rs137852558 |
openSNP | rs137852558 |
23andMe | rs137852558 |
SNPshot | rs137852558 |
SNPdbe | rs137852558 |
MSV3d | rs137852558 |
GWAS Ctlg | rs137852558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852558(T;T) |
Alt | rs137852558(T;T) |
Reference | Rs137852558(G;G) |
Significance | Pathogenic |
Disease | Leri Weill dyschondrosteosis |
Variation | info |
Gene | SHOX |
CLNDBN | Leri Weill dyschondrosteosis |
Reversed | 0 |
HGVS | NC_000023.10:g.595379G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010559.4, |