Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554547986
rs1554547986
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan. 23466821

2013
dbSNP: rs1554547986
rs1554547986
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. 18504680

2008
dbSNP: rs1554547986
rs1554547986
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR GDAP1 mutations in Czech families with early-onset CMT. 17433678

2007