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rs794726866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726866(A;A)
Make rs794726866(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position20616299
GenePDE3A
is asnp
is mentioned by
dbSNPrs794726866
dbSNP (classic)rs794726866
ClinGenrs794726866
ebirs794726866
HLIrs794726866
Exacrs794726866
Gnomadrs794726866
Varsomers794726866
LitVarrs794726866
Maprs794726866
PheGenIrs794726866
Biobankrs794726866
1000 genomesrs794726866
hgdprs794726866
ensemblrs794726866
geneviewrs794726866
scholarrs794726866
googlers794726866
pharmgkbrs794726866
gwascentralrs794726866
openSNPrs794726866
23andMers794726866
SNPshotrs794726866
SNPdbers794726866
MSV3drs794726866
GWAS Ctlgrs794726866
Max Magnitude0
ClinVar
Risk rs794726866(A;A)
Alt rs794726866(A;A)
Reference Rs794726866(G;G)
Significance Pathogenic
Disease Brachydactyly with hypertension
Variation info
Gene PDE3A
CLNDBN Brachydactyly with hypertension
Reversed 0
HGVS NC_000012.11:g.20769233G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000173041.2,