Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4280262
rs4280262
Entrez Id: 9516
Gene Symbol: LITAF
LITAF
CUI: C0393814
Disease:
Hereditary liability to pressure palsies
0.020 GeneticVariation BEFREE Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders. 25342198 2015
dbSNP: rs4280262
rs4280262
Entrez Id: 9516
Gene Symbol: LITAF
LITAF
CUI: C0393814
Disease:
Hereditary liability to pressure palsies
0.020 GeneticVariation BEFREE In our patients, early-onset HNPP was associated frequently with isoleucine92valine LITAF polymorphism. 24668782 2014