rs886037910
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886037910(C;C) |
Make rs886037910(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 42699943 |
Gene | GHR |
is a | snp |
is | mentioned by |
dbSNP | rs886037910 |
dbSNP (classic) | rs886037910 |
ClinGen | rs886037910 |
ebi | rs886037910 |
HLI | rs886037910 |
Exac | rs886037910 |
Gnomad | rs886037910 |
Varsome | rs886037910 |
LitVar | rs886037910 |
Map | rs886037910 |
PheGenI | rs886037910 |
Biobank | rs886037910 |
1000 genomes | rs886037910 |
hgdp | rs886037910 |
ensembl | rs886037910 |
geneview | rs886037910 |
scholar | rs886037910 |
rs886037910 | |
pharmgkb | rs886037910 |
gwascentral | rs886037910 |
openSNP | rs886037910 |
23andMe | rs886037910 |
SNPshot | rs886037910 |
SNPdbe | rs886037910 |
MSV3d | rs886037910 |
GWAS Ctlg | rs886037910 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037910(C;C) |
Alt | rs886037910(C;C) |
Reference | Rs886037910(T;T) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | GHR |
CLNDBN | Short stature, idiopathic, autosomal |
Reversed | 0 |
HGVS | NC_000005.9:g.42700045T>C |
CLNSRC | |
CLNACC | RCV000240723.1, |