Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1321220871
rs1321220871
LMNA
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 GeneticVariation BEFREE Because this mutation was predicted to cause a frameshift mutation and premature termination (p.Gln258HisfsTer222) in LMNA, we believe that this LMNA mutation was the causal mutation in this family with CCD and laminopathies. 29628476

2018