Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. 19744956

2009
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644

2003