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rs797044463

From SNPedia

ClinVar
Risk rs797044463(T;T)
Alt rs797044463(T;T)
Reference rs797044463(;)
Significance Pathogenic
Disease Acrocallosal syndrome
Variation info
Gene KIF7
CLNDBN Acrocallosal syndrome, Schinzel type
Reversed 1
HGVS NC_000015.9:g.90192541dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023884.2,