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rs797045950

From SNPedia

ClinVar
Risk rs797045950(CCT;CCT)
Alt rs797045950(CCT;CCT)
Reference rs797045950(;)
Significance Probable-Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene SEPN1
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 0
HGVS NC_000001.10:g.26135596_26135598dupCCT
CLNSRC
CLNACC RCV000192616.1,