RS756026847 CLASP1;CLASP1-AS1;RNU4ATAC

Health Risk Chr 2:121530916
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What This Variant Does
"A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in ...
Associated Conditions
Roifman syndrome
Osteodysplastic primordial dwarfism
type 1
Spondyloepiphyseal dysplasia congenita
Lowry-Wood syndrome
RNU4ATAC-related disorder
CLASP1-related disorder
RNU4ATAC spectrum disorder
Roifman syndrome
Osteodysplastic primordial dwarfism
type 1
Spondyloepiphyseal dysplasia congenita
Lowry-Wood syndrome
RNU4ATAC-related disorder
CLASP1-related disorder
Other Variants in CLASP1;CLASP1-AS1;RNU4ATAC
rs188343279 rs180755563 rs750325275 rs370715569 rs139495292 rs982261295 rs765906028 rs566340581
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