Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs574861276
rs574861276
PRX
A 0.700 CausalMutation CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672

2017

dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016

dbSNP: rs1301129751
rs1301129751
PRX
GA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016

dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016

dbSNP: rs752192677
rs752192677
PRX
C 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014

dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012

dbSNP: rs1301129751
rs1301129751
PRX
GA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012

dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012

dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524

2006

dbSNP: rs1301129751
rs1301129751
PRX
GA 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524

2006

dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524

2006

dbSNP: rs104894708
rs104894708
PRX
A 0.700 CausalMutation CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949

2004

dbSNP: rs104894708
rs104894708
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004

dbSNP: rs104894714
rs104894714
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004

dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004

dbSNP: rs1301129751
rs1301129751
PRX
GA 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004

dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004

dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949

2004

dbSNP: rs104894707
rs104894707
PRX
T 0.700 CausalMutation CLINVAR Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 12112076

2002

dbSNP: rs1568710514
rs1568710514
PRX
C 0.700 CausalMutation CLINVAR Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 12112076

2002

dbSNP: rs574861276
rs574861276
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 12112076

2002

dbSNP: rs104894714
rs104894714
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365

2001

dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365

2001