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rs797044783

From SNPedia

ClinVar
Risk rs797044783(C;C)
Alt rs797044783(C;C)
Reference rs797044783(;)
Significance Pathogenic
Disease Severe autosomal recessive muscular dystrophy of childhood - North African type
Variation info
Gene SGCG
CLNDBN Severe autosomal recessive muscular dystrophy of childhood - North African type
Reversed 0
HGVS NC_000013.10:g.23898539dupC
CLNSRC
CLNACC RCV000180113.1,