Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Heterotaxy Syndrome
CUI: C3178805
Disease: Heterotaxy Syndrome
0.700 GeneticVariation CLINVAR Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
Heterotaxy Syndrome
CUI: C3178805
Disease: Heterotaxy Syndrome
0.700 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542 2016