rs515726221
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs515726221(A;A) |
Make rs515726221(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 87261272 |
Gene | POU1F1 |
is a | snp |
is | mentioned by |
dbSNP | rs515726221 |
dbSNP (classic) | rs515726221 |
ClinGen | rs515726221 |
ebi | rs515726221 |
HLI | rs515726221 |
Exac | rs515726221 |
Gnomad | rs515726221 |
Varsome | rs515726221 |
LitVar | rs515726221 |
Map | rs515726221 |
PheGenI | rs515726221 |
Biobank | rs515726221 |
1000 genomes | rs515726221 |
hgdp | rs515726221 |
ensembl | rs515726221 |
geneview | rs515726221 |
scholar | rs515726221 |
rs515726221 | |
pharmgkb | rs515726221 |
gwascentral | rs515726221 |
openSNP | rs515726221 |
23andMe | rs515726221 |
SNPshot | rs515726221 |
SNPdbe | rs515726221 |
MSV3d | rs515726221 |
GWAS Ctlg | rs515726221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726221(A;A) |
Alt | rs515726221(A;A) |
Reference | Rs515726221(C;C) |
Significance | Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | POU1F1 |
CLNDBN | Pituitary hormone deficiency, combined 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.87310422C>A |
CLNSRC | ClinVar Seth G.S. Medical College and K.E.M. Hospital |
CLNACC | RCV000114426.1, |