WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
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: rs387906980
rs387906980 		0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.800 1.000 2 2013 2013
dbSNP: rs387906980
rs387906980 		0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs387906980
rs387906980 		0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C3280616
Disease: CRANIOECTODERMAL DYSPLASIA 4
CRANIOECTODERMAL DYSPLASIA 4 		0.800 1.000 1 2011 2011
dbSNP: rs387906980
rs387906980 		0.807 0.200 4 39231943 missense variant T/C snv 1.2E-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 0.010 1.000 1 2014 2014
dbSNP: rs387906980
rs387906980 		0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906980
rs387906980 		0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 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: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C3549567
Disease: Echogenic kidneys
Echogenic kidneys 		0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		Mental Disorders 0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0239399
Disease: Short extremities
Short extremities 		0.700 0