Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761805324
rs761805324
CNTNAP1
0.800 GeneticVariation UNIPROT Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. 29511323

2018
dbSNP: rs779027563
rs779027563
CNTNAP1
0.800 GeneticVariation UNIPROT Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. 29511323

2018
dbSNP: rs761805324
rs761805324
CNTNAP1
0.800 GeneticVariation UNIPROT Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs761805324
rs761805324
CNTNAP1
0.800 GeneticVariation UNIPROT CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 28374019

2017
dbSNP: rs779027563
rs779027563
CNTNAP1
0.800 GeneticVariation UNIPROT CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 28374019

2017
dbSNP: rs779027563
rs779027563
CNTNAP1
0.800 GeneticVariation UNIPROT Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs761805324
rs761805324
CNTNAP1
0.800 GeneticVariation UNIPROT Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. 27818385

2016
dbSNP: rs779027563
rs779027563
CNTNAP1
0.800 GeneticVariation UNIPROT Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. 27818385

2016
dbSNP: rs761805324
rs761805324
CNTNAP1
T 0.800 CausalMutation CLINVAR

dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.800 CausalMutation CLINVAR

dbSNP: rs12137595
rs12137595 		T 0.700 GeneticVariation GWASCAT Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. 30958311

2019
dbSNP: rs11154178
rs11154178
TRDN ; LOC105377982
0.700 GeneticVariation GWASCAT A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers. 28672053

2017
dbSNP: rs28485846
rs28485846
UNC5D
0.700 GeneticVariation GWASCAT A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers. 28672053

2017
dbSNP: rs3761980
rs3761980
MAPK14 ; SLC26A8
C 0.700 GeneticVariation GWASCAT A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers. 28672053

2017
dbSNP: rs71597855
rs71597855 		0.700 GeneticVariation GWASCAT A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers. 28672053

2017
dbSNP: rs80028505
rs80028505
MAPK14
T 0.700 GeneticVariation GWASCAT A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers. 28672053

2017
dbSNP: rs1567969825
rs1567969825
CNTNAP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567973088
rs1567973088
CNTNAP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs756896276
rs756896276
CNTNAP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs768554986
rs768554986
CNTNAP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs878853221
rs878853221
CNTNAP1
A 0.700 CausalMutation CLINVAR