Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776221160
rs776221160
SH3TC2
T 0.700 CausalMutation CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023

2016
dbSNP: rs776221160
rs776221160
SH3TC2
T 0.700 CausalMutation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011