Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338931
rs80338931
SH3TC2
A 0.700 CausalMutation CLINVAR Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352

2015
dbSNP: rs80338931
rs80338931
SH3TC2
A 0.700 CausalMutation CLINVAR Phenotypic variability of CMT4C in a French-Canadian kindred. 25737037

2015
dbSNP: rs80338931
rs80338931
SH3TC2
A 0.700 CausalMutation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006