rs878855327, ANKRD11

N. diseases: 5
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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 0
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
46 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 0
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 1.000 17 2004 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 1.000 17 2004 2017