Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894621
rs104894621
PMP22
0.020 GeneticVariation BEFREE Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. 10399754

1999
dbSNP: rs104894621
rs104894621
PMP22
0.020 GeneticVariation BEFREE On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. 9585367

1998