Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516040
rs1057516040
NALCN
CUI: C4025173
Disease: Arthrogryposis-like hand anomaly
Arthrogryposis-like hand anomaly 		C 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