Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1426926688
rs1426926688
LAMC3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1426926688
rs1426926688
LAMC3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Recessive LAMC3 mutations cause malformations of occipital cortical development. 21572413

2011