Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657412
rs876657412
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
CUI: C4310790
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
AAGCC 0.700 CausalMutation CLINVAR