Have questions? Visit https://www.reddit.com/r/SNPedia

rs794726864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726864(A;A)
Make rs794726864(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position20616294
GenePDE3A
is asnp
is mentioned by
dbSNPrs794726864
dbSNP (classic)rs794726864
ClinGenrs794726864
ebirs794726864
HLIrs794726864
Exacrs794726864
Gnomadrs794726864
Varsomers794726864
LitVarrs794726864
Maprs794726864
PheGenIrs794726864
Biobankrs794726864
1000 genomesrs794726864
hgdprs794726864
ensemblrs794726864
geneviewrs794726864
scholarrs794726864
googlers794726864
pharmgkbrs794726864
gwascentralrs794726864
openSNPrs794726864
23andMers794726864
SNPshotrs794726864
SNPdbers794726864
MSV3drs794726864
GWAS Ctlgrs794726864
Max Magnitude0
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,