Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023

2016
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 26752306

2016
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 22978647

2013
dbSNP: rs80338934
rs80338934
SH3TC2
0.710 GeneticVariation BEFREE The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135

2007
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135

2007
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 16326826

2005