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rs727502779

From SNPedia

ClinVar
Risk rs727502779(GGGACTCTGTGAAGCTG;GGGACTCTGTGAAGCTG)
Alt rs727502779(GGGACTCTGTGAAGCTG;GGGACTCTGTGAAGCTG)
Reference rs727502779(;)
Significance Pathogenic
Disease Metaphyseal dysplasia without hypotrichosis
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal dysplasia without hypotrichosis
Reversed 1
HGVS NC_000009.11:g.35658034_35658035insGTCCCCAGCTTCACAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015287.27,