rs782304760, KDM2B

N. diseases: 4
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0