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rs797045566

From SNPedia

ClinVar
Risk rs797045566(A;A)
Alt rs797045566(A;A)
Reference rs797045566(;)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637740dupA
CLNSRC
CLNACC RCV000194407.1,