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rs1057519298

From SNPedia

ClinVar
Risk rs1057519298(-;-)
Alt rs1057519298(-;-)
Reference Rs1057519298(AGAAG;AGAAG)
Significance Pathogenic
Disease Alazami syndrome
Variation info
Gene LARP7
CLNDBN Alazami syndrome
Reversed 0
HGVS NC_000004.11:g.113568359_113568363delGAAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415535.1,