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rs797045565

From SNPedia

ClinVar
Risk rs797045565(TTTTAT;TTTTAT)
Alt rs797045565(TTTTAT;TTTTAT)
Reference rs797045565(A;A)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637723delAinsTTTTAT
CLNSRC
CLNACC RCV000193201.1,