Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy. 11314784

2001
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. 10399754

1999
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72." 9585367

1998
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. 9004143

1996
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. 8275092

1993