WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: CRANIOECTODERMAL DYSPLASIA 1 ×
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: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018