Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942092
rs28942092
CRELD1
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). 15857420

2005
dbSNP: rs28942092
rs28942092
CRELD1
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 12632326

2003