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rs878853119

From SNPedia

ClinVar
Risk rs878853119(;)
Alt rs878853119(;)
Reference rs878853119(GGGGCGCCGGGCCCGG;GGGGCGCCGGGCCCGG)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71936052_71936067del16
CLNSRC
CLNACC RCV000224420.1,