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.
CRANIOECTODERMAL DYSPLASIA 1
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
12 0.925 0.160 3 129440351 missense variant G/C snv 0.800 1.000 5 2010 2018
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
22 0.925 0.160 3 129440351 missense variant G/C snv 0.700 0