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rs797045868

From SNPedia

ClinVar
Risk rs797045868(TGACCCA;TGACCCA)
Alt rs797045868(TGACCCA;TGACCCA)
Reference rs797045868(CTG;CTG)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577452_2577454delCTGinsTGACCCA
CLNSRC
CLNACC RCV000192780.1,