rs1553270522, ZBTB18

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017