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rs863223287

From SNPedia

ClinVar
Risk rs863223287(;)
Alt rs863223287(;)
Reference rs863223287(ATGGACCT;ATGGACCT)
Significance Pathogenic
Disease Chondrodysplasia acromesomelic with genital anomalies
Variation info
Gene BMPR1B
CLNDBN Chondrodysplasia acromesomelic with genital anomalies
Reversed 0
HGVS NC_000004.11:g.96044972_96044979delGGACCTAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006935.3,