rs140016178
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140016178(A;A) |
Make rs140016178(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 177995888 |
Gene | PROP1 |
is a | snp |
is | mentioned by |
dbSNP | rs140016178 |
dbSNP (classic) | rs140016178 |
ClinGen | rs140016178 |
ebi | rs140016178 |
HLI | rs140016178 |
Exac | rs140016178 |
Gnomad | rs140016178 |
Varsome | rs140016178 |
LitVar | rs140016178 |
Map | rs140016178 |
PheGenI | rs140016178 |
Biobank | rs140016178 |
1000 genomes | rs140016178 |
hgdp | rs140016178 |
ensembl | rs140016178 |
geneview | rs140016178 |
scholar | rs140016178 |
rs140016178 | |
pharmgkb | rs140016178 |
gwascentral | rs140016178 |
openSNP | rs140016178 |
23andMe | rs140016178 |
SNPshot | rs140016178 |
SNPdbe | rs140016178 |
MSV3d | rs140016178 |
GWAS Ctlg | rs140016178 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140016178(A;A) rs140016178(C;C) |
Alt | rs140016178(A;A) rs140016178(C;C) |
Reference | Rs140016178(G;G) |
Significance | Probable-Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | PROP1 |
CLNDBN | Pituitary hormone deficiency, combined |
Reversed | 0 |
HGVS | NC_000005.9:g.177422889G>A |
CLNSRC | ClinVar |
CLNACC | RCV000030381.1, |