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rs279552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs279552(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position9934475
GeneCRELD1
is asnp
is mentioned by
dbSNPrs279552
ebirs279552
HLIrs279552
Exacrs279552
Varsomers279552
Maprs279552
PheGenIrs279552
hapmaprs279552
1000 genomesrs279552
hgdprs279552
ensemblrs279552
gopubmedrs279552
geneviewrs279552
scholarrs279552
googlers279552
pharmgkbrs279552
gwascentralrs279552
openSNPrs279552
23andMers279552
23andMe allrs279552
SNP Nexus

SNPshotrs279552
SNPdbers279552
MSV3drs279552
GWAS Ctlgrs279552
GMAF0.006428
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CRELD1
allele G
frequency
sift
HuRef 1103656022020
Disease Association Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect 2 (AVSD2) (MIM:606217, 600309). AVSD is a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. The complete form of AVSD involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum. A less severe form, known as partial AVSD or ostium primum atrial septal defect has a deficiency of the atrial septum. Complete AVSD are clinically apparent at birth, whereas less severe forms, such as an isolated cleft mitral valve or small defects of the atrial or ventricular septa may go undetected.



GET Evidence
CRELD1-M13V
aa_change Met13Val
aa_change_short M13V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.992006
summary



ClinVar
Risk rs279552(G;G)
Alt rs279552(G;G)
Reference rs279552(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CRELD1
CLNDBN not specified
Reversed 0
HGVS NC_000003.11:g.9976159A\x3d
CLNSRC ClinVar GeneDx
CLNACC RCV000124609.1,