RS863225422 RNU4ATAC

Health Risk Chr 2:121530927
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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
RNU4ATAC-related spliceosomopathies
Lowry-Wood syndrome
RNU4ATAC spectrum disorder
Roifman syndrome
Osteodysplastic primordial dwarfism
type 1
RNU4ATAC-related spliceosomopathies
Lowry-Wood syndrome
RNU4ATAC spectrum disorder
Other Variants in RNU4ATAC
rs991806266 rs572917990 rs905928272 rs767236617 rs558135361 rs770147655 rs1487164913 rs145446412 rs779143800 rs558667045
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