Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
0.710 GeneticVariation BEFREE We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Tooth neuropathy linked to the CMT2B2 locus in chromosome 19q13.3. 19290556

2009
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
T 0.710 CausalMutation CLINVAR