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rs797045857

From SNPedia

ClinVar
Risk rs797045857(AAGGTAAC;AAGGTAAC)
Alt rs797045857(AAGGTAAC;AAGGTAAC)
Reference rs797045857(;)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2569382_2569389dupAAGGTAAC
CLNSRC
CLNACC RCV000192347.1,