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rs727502776

From SNPedia

ClinVar
Risk rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC)
Alt rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC)
Reference rs727502776(;)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35658025_35658039dupGCTTCACAGAGTAGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015279.27,