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rs797045991

From SNPedia

ClinVar
Risk rs797045991(;)
Alt rs797045991(;)
Reference rs797045991(AAG;AAG)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53438821_53438823delCTT
CLNSRC
CLNACC RCV000195085.1,