WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
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: rs1553324519
rs1553324519 		1.000 2 19982552 intron variant A/T snv
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs1558342399
rs1558342399 		0.925 0.080 2 19953834 missense variant C/T snv
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs199840434
rs199840434 		0.925 2 19969494 stop gained G/A snv 1.6E-05 4.9E-05
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs199840434
rs199840434 		0.925 2 19969494 stop gained G/A snv 1.6E-05 4.9E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal 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: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C4694035
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: rs387907085
rs387907085 		1.000 2 19946495 stop gained G/A;C snv 1.6E-05; 8.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		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: rs397515334
rs397515334 		0.925 0.120 2 19931375 frameshift variant G/- delins 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		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: rs397515533
rs397515533 		0.925 0.120 2 19946536 missense variant A/G snv 7.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs397515534
rs397515534 		0.925 0.120 2 19989284 splice acceptor variant T/C;G snv 8.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		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: rs541910371
rs541910371 		1.000 2 19914229 missense variant T/C;G snv 8.0E-06; 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs767751856
rs767751856 		0.925 2 19953853 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs767751856
rs767751856 		0.925 2 19953853 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0