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rs796065036

From SNPedia

ClinVar
Risk rs796065036(T;T)
Alt rs796065036(T;T)
Reference rs796065036(;)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35657821dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015291.25,