Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752649372
rs752649372
SBF2
C 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 25873783

2014
dbSNP: rs752649372
rs752649372
SBF2
C 0.700 GeneticVariation CLINVAR Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 12687498

2003