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.
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
Deformity
CUI: C0302142
Disease: Deformity
26 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019