rs587776799
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776799(-;T) |
Make rs587776799(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 87259995 |
Gene | POU1F1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776799 |
dbSNP (classic) | rs587776799 |
ClinGen | rs587776799 |
ebi | rs587776799 |
HLI | rs587776799 |
Exac | rs587776799 |
Gnomad | rs587776799 |
Varsome | rs587776799 |
LitVar | rs587776799 |
Map | rs587776799 |
PheGenI | rs587776799 |
Biobank | rs587776799 |
1000 genomes | rs587776799 |
hgdp | rs587776799 |
ensembl | rs587776799 |
geneview | rs587776799 |
scholar | rs587776799 |
rs587776799 | |
pharmgkb | rs587776799 |
gwascentral | rs587776799 |
openSNP | rs587776799 |
23andMe | rs587776799 |
SNPshot | rs587776799 |
SNPdbe | rs587776799 |
MSV3d | rs587776799 |
GWAS Ctlg | rs587776799 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776799(T;T) |
Alt | rs587776799(T;T) |
Reference | Rs587776799(-;-) |
Significance | Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | POU1F1 |
CLNDBN | Pituitary hormone deficiency, combined 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.87309145dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014585.27, |