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.
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
9 0.925 0.080 5 14713644 missense variant C/T snv 0.800 1.000 2 2001 2001
Calcium pyrophosphate arthropathy
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
4 0.925 0.080 5 14713644 missense variant C/T snv 0.700 0