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rs878853178

From SNPedia

ClinVar
Risk rs878853178(ACCACGTCCTCAGCTTC;ACCACGTCCTCAGCTTC)
Alt rs878853178(ACCACGTCCTCAGCTTC;ACCACGTCCTCAGCTTC)
Reference rs878853178(;)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 0
HGVS NC_000009.11:g.35658013_35658029dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000015289.27,