rs1057516040, NALCN

N. diseases: 7
Disease: Overfolded helix ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overfolded helix
CUI: C1837731
Disease: Overfolded helix
0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016