WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Cranioectodermal dysplasia ×
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: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 3 2013 2017
dbSNP: rs267607174
rs267607174 		0.925 0.120 2 19945787 missense variant T/C snv
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs267607175
rs267607175 		0.925 0.120 2 19933469 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515334
rs397515334 		0.925 0.120 2 19931375 frameshift variant G/- delins 4.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515533
rs397515533 		0.925 0.120 2 19946536 missense variant A/G snv 7.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515534
rs397515534 		0.925 0.120 2 19989284 splice acceptor variant T/C;G snv 8.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515535
rs397515535 		1.000 0.120 2 19931354 missense variant T/C snv 8.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515536
rs397515536 		1.000 0.120 2 19975596 missense variant A/T snv 1.4E-05
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018