rs1553317813, WDR35

N. diseases: 2
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 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
17 0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins 0.700 0
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
13 0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins 0.700 0