rs587783609, EBP

N. diseases: 1
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.
Chondrodysplasia punctata, X-linked dominant type
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
39 1.000 0.040 X 48526997 missense variant T/C snv 0.700 0