rs863223309
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863223309(A;T) |
Make rs863223309(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 63918138 |
Gene | GH1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223309 |
dbSNP (classic) | rs863223309 |
ClinGen | rs863223309 |
ebi | rs863223309 |
HLI | rs863223309 |
Exac | rs863223309 |
Gnomad | rs863223309 |
Varsome | rs863223309 |
LitVar | rs863223309 |
Map | rs863223309 |
PheGenI | rs863223309 |
Biobank | rs863223309 |
1000 genomes | rs863223309 |
hgdp | rs863223309 |
ensembl | rs863223309 |
geneview | rs863223309 |
scholar | rs863223309 |
rs863223309 | |
pharmgkb | rs863223309 |
gwascentral | rs863223309 |
openSNP | rs863223309 |
23andMe | rs863223309 |
SNPshot | rs863223309 |
SNPdbe | rs863223309 |
MSV3d | rs863223309 |
GWAS Ctlg | rs863223309 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223309(T;T) |
Alt | rs863223309(T;T) |
Reference | Rs863223309(A;A) |
Significance | Pathogenic |
Disease | Autosomal dominant isolated somatotropin deficiency |
Variation | info |
Gene | GH1 |
CLNDBN | Autosomal dominant isolated somatotropin deficiency |
Reversed | 1 |
HGVS | NC_000017.10:g.61995498T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017349.30, |