Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142000963
rs142000963
LMNA
T 0.700 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs142000963
rs142000963
LMNA
T 0.700 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590

2008