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rs797045121

From SNPedia

ClinVar
Risk rs797045121(;)
Alt rs797045121(;)
Reference rs797045121(CTTCGAG;CTTCGAG)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149895451_149895457delCTCGAAG
CLNSRC
CLNACC RCV000190847.1,