rs104893757
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893757(C;T) |
Make rs104893757(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 87276392 |
Gene | POU1F1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893757 |
dbSNP (classic) | rs104893757 |
ClinGen | rs104893757 |
ebi | rs104893757 |
HLI | rs104893757 |
Exac | rs104893757 |
Gnomad | rs104893757 |
Varsome | rs104893757 |
LitVar | rs104893757 |
Map | rs104893757 |
PheGenI | rs104893757 |
Biobank | rs104893757 |
1000 genomes | rs104893757 |
hgdp | rs104893757 |
ensembl | rs104893757 |
geneview | rs104893757 |
scholar | rs104893757 |
rs104893757 | |
pharmgkb | rs104893757 |
gwascentral | rs104893757 |
openSNP | rs104893757 |
23andMe | rs104893757 |
SNPshot | rs104893757 |
SNPdbe | rs104893757 |
MSV3d | rs104893757 |
GWAS Ctlg | rs104893757 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893757(T;T) |
Alt | rs104893757(T;T) |
Reference | Rs104893757(C;C) |
Significance | Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | POU1F1 |
CLNDBN | Pituitary hormone deficiency, combined 1 |
Reversed | 1 |
HGVS | NC_000003.11:g.87325542G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014575.20, |