Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045131

From SNPedia

ClinVar
Risk rs797045131(CCCA;CCCA)
Alt rs797045131(CCCA;CCCA)
Reference rs797045131(;)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149898310_149898313dupTGGG
CLNSRC
CLNACC RCV000190858.1,