Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1221804567
rs1221804567
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
C 0.700 CausalMutation CLINVAR The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. 20685671

2010

dbSNP: rs1221804567
rs1221804567
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
C 0.700 CausalMutation CLINVAR The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. 11743580

2002