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rs797045992

From SNPedia

ClinVar
Risk rs797045992(;)
Alt rs797045992(;)
Reference rs797045992(AGA;AGA)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene MIR6857 SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53432187_53432189delTCT
CLNSRC
CLNACC RCV000193116.1,