Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
0.710 GeneticVariation BEFREE In addition, the expressed S60C mutant myotilin protein displayed marked detergent insolubility in electroporated mouse muscle, similar to that observed in human MFM muscle with the same mutation. 22349301

2012
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
G 0.710 CausalMutation CLINVAR