rs201968272, DDX11

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.
WARSAW BREAKAGE SYNDROME
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
5 0.925 0.160 12 31089147 missense variant G/A snv 0.810 1.000 3 2010 2015
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013