rs121917842
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917842(A;A) |
Make rs121917842(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 177994230 |
Gene | PROP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121917842 |
dbSNP (classic) | rs121917842 |
ClinGen | rs121917842 |
ebi | rs121917842 |
HLI | rs121917842 |
Exac | rs121917842 |
Gnomad | rs121917842 |
Varsome | rs121917842 |
LitVar | rs121917842 |
Map | rs121917842 |
PheGenI | rs121917842 |
Biobank | rs121917842 |
1000 genomes | rs121917842 |
hgdp | rs121917842 |
ensembl | rs121917842 |
geneview | rs121917842 |
scholar | rs121917842 |
rs121917842 | |
pharmgkb | rs121917842 |
gwascentral | rs121917842 |
openSNP | rs121917842 |
23andMe | rs121917842 |
SNPshot | rs121917842 |
SNPdbe | rs121917842 |
MSV3d | rs121917842 |
GWAS Ctlg | rs121917842 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917842(A;A) |
Alt | rs121917842(A;A) |
Reference | Rs121917842(G;G) |
Significance | Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | PROP1 |
CLNDBN | Pituitary hormone deficiency, combined 2 |
Reversed | 1 |
HGVS | NC_000005.9:g.177421231C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008571.3, |