Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763993653
rs763993653
CHKB ; CPT1B ; CHKB-CPT1B
0.010 GeneticVariation BEFREE Both were shown to be compound heterozygotes for novel mutations (c.263C>T + c.950T>A) in CHKB, the gene currently associated with Megaconial Congenital Muscular Dystrophy. 26782016

2016