rs45588036
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs45588036(C;C) |
Make rs45588036(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 42711314 |
Gene | GHR |
is a | snp |
is | mentioned by |
dbSNP | rs45588036 |
dbSNP (classic) | rs45588036 |
ClinGen | rs45588036 |
ebi | rs45588036 |
HLI | rs45588036 |
Exac | rs45588036 |
Gnomad | rs45588036 |
Varsome | rs45588036 |
LitVar | rs45588036 |
Map | rs45588036 |
PheGenI | rs45588036 |
Biobank | rs45588036 |
1000 genomes | rs45588036 |
hgdp | rs45588036 |
ensembl | rs45588036 |
geneview | rs45588036 |
scholar | rs45588036 |
rs45588036 | |
pharmgkb | rs45588036 |
gwascentral | rs45588036 |
openSNP | rs45588036 |
23andMe | rs45588036 |
SNPshot | rs45588036 |
SNPdbe | rs45588036 |
MSV3d | rs45588036 |
GWAS Ctlg | rs45588036 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45588036(C;C) |
Alt | rs45588036(C;C) |
Reference | Rs45588036(G;G) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | GHR |
CLNDBN | Short stature, idiopathic, autosomal |
Reversed | 0 |
HGVS | NC_000005.9:g.42711416G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009170.3, |