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: rs748656635
rs748656635 		0.882 0.120 4 39205626 frameshift variant -/A delins 3.6E-05 4.2E-05
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 1.000 2 2013 2013
dbSNP: rs748656635
rs748656635 		0.882 0.120 4 39205626 frameshift variant -/A delins 3.6E-05 4.2E-05
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 1.000 2 2013 2013
dbSNP: rs748656635
rs748656635 		0.882 0.120 4 39205626 frameshift variant -/A delins 3.6E-05 4.2E-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: rs786205114
rs786205114 		1.000 4 39255913 stop gained -/A delins
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0
dbSNP: rs1553918403
rs1553918403 		1.000 0.080 4 39272978 splice acceptor variant A/C snv
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs374400438
rs374400438 		1.000 4 39199476 splice acceptor variant A/G snv 4.1E-06
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 0
dbSNP: rs375644378
rs375644378 		1.000 0.120 4 39205663 missense variant A/G snv 1.6E-05 3.5E-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: rs747165335
rs747165335 		0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 0
dbSNP: rs747165335
rs747165335 		0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs747165335
rs747165335 		0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06
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: rs747165335
rs747165335 		0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0
dbSNP: rs747165335
rs747165335 		0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs387906981
rs387906981 		0.925 0.120 4 39268040 stop gained C/A;T snv 4.3E-06; 1.3E-05
CUI: C3280616
Disease: CRANIOECTODERMAL DYSPLASIA 4
CRANIOECTODERMAL DYSPLASIA 4 		0.700 0
dbSNP: rs387906981
rs387906981 		0.925 0.120 4 39268040 stop gained C/A;T snv 4.3E-06; 1.3E-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: 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