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rs797044469

From SNPedia

ClinVar
Risk rs797044469(;)
Alt rs797044469(;)
Reference rs797044469(CCAGA;CCAGA)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71939423_71939427delAGACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032674.4,