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rs797045129

From SNPedia

ClinVar
Risk rs797045129(A;A)
Alt rs797045129(A;A)
Reference rs797045129(;)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897845dupT
CLNSRC
CLNACC RCV000190856.1,