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rs863223335

From SNPedia

ClinVar
Risk rs863223335(A;A)
Alt rs863223335(A;A)
Reference rs863223335(;)
Significance Pathogenic
Disease Pena-Shokeir syndrome type I
Variation info
Gene MUSK
CLNDBN Pena-Shokeir syndrome type I
Reversed 0
HGVS NC_000009.11:g.113431224dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000170587.3,