rs76308115
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs76308115(C;T) |
Make rs76308115(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 178014454 |
Gene | PDE11A |
is a | snp |
is | mentioned by |
dbSNP | rs76308115 |
dbSNP (classic) | rs76308115 |
ClinGen | rs76308115 |
ebi | rs76308115 |
HLI | rs76308115 |
Exac | rs76308115 |
Gnomad | rs76308115 |
Varsome | rs76308115 |
LitVar | rs76308115 |
Map | rs76308115 |
PheGenI | rs76308115 |
Biobank | rs76308115 |
1000 genomes | rs76308115 |
hgdp | rs76308115 |
ensembl | rs76308115 |
geneview | rs76308115 |
scholar | rs76308115 |
rs76308115 | |
pharmgkb | rs76308115 |
gwascentral | rs76308115 |
openSNP | rs76308115 |
23andMe | rs76308115 |
SNPshot | rs76308115 |
SNPdbe | rs76308115 |
MSV3d | rs76308115 |
GWAS Ctlg | rs76308115 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76308115(T;T) |
Alt | rs76308115(T;T) |
Reference | Rs76308115(C;C) |
Significance | Pathogenic |
Disease | Pigmented nodular adrenocortical disease not specified |
Variation | info |
Gene | PDE11A |
CLNDBN | Pigmented nodular adrenocortical disease, primary, 2 not specified |
Reversed | 1 |
HGVS | NC_000002.11:g.178879181G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005604.3, RCV000434464.1, |