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rs587783893

From SNPedia

ClinVar
Risk rs587783893(;)
Alt rs587783893(;)
Reference rs587783893(CCATAGCCTCAA;CCATAGCCTCAA)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36955710_36955721delTAGCCTCAACCA
CLNSRC
CLNACC RCV000146531.1,