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rs797045127

From SNPedia

ClinVar
Risk rs797045127(GGGTATG;GGGTATG)
Alt rs797045127(GGGTATG;GGGTATG)
Reference rs797045127(;)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897804_149897805insCATACCC
CLNSRC
CLNACC RCV000190854.1,