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

rs786200901

From SNPedia

ClinVar
Risk rs786200901(CGCGCGGACCCGTGCGC;CGCGCGGACCCGTGCGC)
Alt rs786200901(CGCGCGGACCCGTGCGC;CGCGCGGACCCGTGCGC)
Reference Rs786200901(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39997876_39997892dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000007233.3,