Gene: SBF2-AS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
T 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 25873783

2014
dbSNP: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
T 0.700 CausalMutation CLINVAR A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). 15477569

2004
dbSNP: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
T 0.700 CausalMutation 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
dbSNP: rs1060499999
rs1060499999
SBF2 ; SBF2-AS1
T 0.700 GeneticVariation CLINVAR