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rs863224849

From SNPedia

ClinVar
Risk rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
Alt rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
Reference rs863224849(;)
Significance Probable-Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene B3GALNT2
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Reversed 1
HGVS NC_000001.10:g.235613569_235613586dup18
CLNSRC
CLNACC RCV000195857.1,