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

rs797044806

From SNPedia

ClinVar
Risk rs797044806(C;C)
Alt rs797044806(C;C)
Reference rs797044806(;)
Significance Pathogenic
Disease Spondyloocular syndrome
Variation info
Gene XYLT2
CLNDBN Spondyloocular syndrome, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.48431832dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000190243.2,