rs794726864
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794726864(A;A) |
Make rs794726864(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 20616294 |
Gene | PDE3A |
is a | snp |
is | mentioned by |
dbSNP | rs794726864 |
dbSNP (classic) | rs794726864 |
ClinGen | rs794726864 |
ebi | rs794726864 |
HLI | rs794726864 |
Exac | rs794726864 |
Gnomad | rs794726864 |
Varsome | rs794726864 |
LitVar | rs794726864 |
Map | rs794726864 |
PheGenI | rs794726864 |
Biobank | rs794726864 |
1000 genomes | rs794726864 |
hgdp | rs794726864 |
ensembl | rs794726864 |
geneview | rs794726864 |
scholar | rs794726864 |
rs794726864 | |
pharmgkb | rs794726864 |
gwascentral | rs794726864 |
openSNP | rs794726864 |
23andMe | rs794726864 |
SNPshot | rs794726864 |
SNPdbe | rs794726864 |
MSV3d | rs794726864 |
GWAS Ctlg | rs794726864 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726864(A;A) rs794726864(G;G) |
Alt | rs794726864(A;A) rs794726864(G;G) |
Reference | Rs794726864(C;C) |
Significance | Pathogenic |
Disease | Brachydactyly with hypertension |
Variation | info |
Gene | PDE3A |
CLNDBN | Brachydactyly with hypertension |
Reversed | 0 |
HGVS | NC_000012.11:g.20769228C>A; NC_000012.11:g.20769228C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000173038.2, RCV000173040.2, |