rs778921118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs778921118(C;C) |
Make rs778921118(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 640862 |
Gene | SHOX |
is a | snp |
is | mentioned by |
dbSNP | rs778921118 |
dbSNP (classic) | rs778921118 |
ClinGen | rs778921118 |
ebi | rs778921118 |
HLI | rs778921118 |
Exac | rs778921118 |
Gnomad | rs778921118 |
Varsome | rs778921118 |
LitVar | rs778921118 |
Map | rs778921118 |
PheGenI | rs778921118 |
Biobank | rs778921118 |
1000 genomes | rs778921118 |
hgdp | rs778921118 |
ensembl | rs778921118 |
geneview | rs778921118 |
scholar | rs778921118 |
rs778921118 | |
pharmgkb | rs778921118 |
gwascentral | rs778921118 |
openSNP | rs778921118 |
23andMe | rs778921118 |
SNPshot | rs778921118 |
SNPdbe | rs778921118 |
MSV3d | rs778921118 |
GWAS Ctlg | rs778921118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778921118(C;C) rs778921118(T;T) |
Alt | rs778921118(C;C) rs778921118(T;T) |
Reference | Rs778921118(G;G) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | SHOX |
CLNDBN | Short stature, idiopathic, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.601597G\x3d; NC_000023.10:g.601597G>C |
CLNSRC | |
CLNACC | RCV000256218.1, RCV000256224.1, |