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rs1057516409

From SNPedia

ClinVar
Risk rs1057516409(-;-)
Alt rs1057516409(-;-)
Reference Rs1057516409(TAGGCTGGAATGACCAGG;TAGGCTGGAATGACCAGG)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46658171_46658188del18
CLNSRC
CLNACC RCV000411800.1,