rs6413484
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs6413484(A;A) |
Make rs6413484(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 42699868 |
Gene | GHR |
is a | snp |
is | mentioned by |
dbSNP | rs6413484 |
dbSNP (classic) | rs6413484 |
ClinGen | rs6413484 |
ebi | rs6413484 |
HLI | rs6413484 |
Exac | rs6413484 |
Gnomad | rs6413484 |
Varsome | rs6413484 |
LitVar | rs6413484 |
Map | rs6413484 |
PheGenI | rs6413484 |
Biobank | rs6413484 |
1000 genomes | rs6413484 |
hgdp | rs6413484 |
ensembl | rs6413484 |
geneview | rs6413484 |
scholar | rs6413484 |
rs6413484 | |
pharmgkb | rs6413484 |
gwascentral | rs6413484 |
openSNP | rs6413484 |
23andMe | rs6413484 |
SNPshot | rs6413484 |
SNPdbe | rs6413484 |
MSV3d | rs6413484 |
GWAS Ctlg | rs6413484 |
GMAF | 0.005969 |
Max Magnitude | 0 |
? | (G;G) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs6413484(A;A) rs6413484(T;T) |
Alt | rs6413484(A;A) rs6413484(T;T) |
Reference | Rs6413484(G;G) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | GHR |
CLNDBN | Short stature, idiopathic, autosomal |
Reversed | 0 |
HGVS | NC_000005.9:g.42699970G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009184.4, |