WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: CRANIOECTODERMAL DYSPLASIA 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553317813
rs1553317813 		0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0