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

rs764328696

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 5 Atrial septal defect, type 4
(A;G) 5 Atrial septal defect, type 4
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position35248696
GeneTBX20
is asnp
is mentioned by
dbSNPrs764328696
ebirs764328696
HLIrs764328696
Exacrs764328696
Varsomers764328696
Maprs764328696
PheGenIrs764328696
hapmaprs764328696
1000 genomesrs764328696
hgdprs764328696
ensemblrs764328696
gopubmedrs764328696
geneviewrs764328696
scholarrs764328696
googlers764328696
pharmgkbrs764328696
gwascentralrs764328696
openSNPrs764328696
23andMers764328696
23andMe allrs764328696
SNP Nexus

SNPshotrs764328696
SNPdbers764328696
MSV3drs764328696
GWAS Ctlgrs764328696
Max Magnitude5
rs764328696, also known as c.526G>A, p.Asp176Asn and D176N, represents a mutation in the TBX20 gene on chromosome 7.

The rare (A) allele was identified based on whole exome sequencing of a Chinese family as causative for familial atrial septal defect, type 4.[PMID 25183037OA-icon.png]