{{Rsnum
|rsid=279552
|Gene=CRELD1
|Chromosome=3
|position=9934475
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.006428
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CRELD1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 0.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 2.9 | 97.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=279552
|allele=G
|frequency=
|uid=1103656022020
|type=homozygous_SNP
|hugo=CRELD1
|ensembl gene=ENSG00000163703
|ensembl transcript=ENST00000326434
|sift=
|disease=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
|gene=CRELD1
|aa_change=Met13Val
|aa_change_short=M13V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs279552
|overall_frequency_n=10672
|overall_frequency_d=10758
|overall_frequency=0.992006
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|nblosum100=0
|autoscore=1
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}