rs587777644, METTL23

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 0.925 17 76733060 frameshift variant CACT/- delins 0.700 1.000 2 2014 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 17 76733060 frameshift variant CACT/- delins 0.700 1.000 2 2014 2014
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
CUI: C4014745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
3 0.925 17 76733060 frameshift variant CACT/- delins 0.700 0