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rs797045128

From SNPedia

ClinVar
Risk rs797045128(C;C)
Alt rs797045128(C;C)
Reference rs797045128(;)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897814dupG
CLNSRC
CLNACC RCV000190855.1,