rs796065034
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796065034(-;-) |
Make rs796065034(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 25161452 |
Gene | POMC |
is a | snp |
is | mentioned by |
dbSNP | rs796065034 |
dbSNP (classic) | rs796065034 |
ClinGen | rs796065034 |
ebi | rs796065034 |
HLI | rs796065034 |
Exac | rs796065034 |
Gnomad | rs796065034 |
Varsome | rs796065034 |
LitVar | rs796065034 |
Map | rs796065034 |
PheGenI | rs796065034 |
Biobank | rs796065034 |
1000 genomes | rs796065034 |
hgdp | rs796065034 |
ensembl | rs796065034 |
geneview | rs796065034 |
scholar | rs796065034 |
rs796065034 | |
pharmgkb | rs796065034 |
gwascentral | rs796065034 |
openSNP | rs796065034 |
23andMe | rs796065034 |
SNPshot | rs796065034 |
SNPdbe | rs796065034 |
MSV3d | rs796065034 |
GWAS Ctlg | rs796065034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065034(-;-) |
Alt | rs796065034(-;-) |
Reference | Rs796065034(C;C) |
Significance | Pathogenic |
Disease | Proopiomelanocortin deficiency |
Variation | info |
Gene | POMC |
CLNDBN | Proopiomelanocortin deficiency |
Reversed | 1 |
HGVS | NC_000002.11:g.25384321delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014282.25, |