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: rs587777349
rs587777349 		1.000 4 39218103 missense variant G/C snv 7.0E-06
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.800 1.000 2 2013 2013
dbSNP: rs387906982
rs387906982 		1.000 4 39185739 missense variant T/C snv
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.800 1.000 1 2011 2011
dbSNP: rs387906983
rs387906983 		1.000 4 39215913 missense variant T/G snv
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.800 1.000 1 2011 2011
dbSNP: rs1191056931
rs1191056931 		1.000 0.120 4 39274959 splice donor variant G/A;C snv
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: rs1553905326
rs1553905326 		1.000 0.120 4 39205592 missense variant T/C snv
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: rs1553907440
rs1553907440 		0.925 4 39215958 frameshift variant G/- delins
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 0
dbSNP: rs1553907440
rs1553907440 		0.925 4 39215958 frameshift variant G/- delins
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: 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: rs587777348
rs587777348 		1.000 4 39205184 frameshift variant T/-;TT delins
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 0
dbSNP: rs587777350
rs587777350 		1.000 4 39205232 stop gained C/T snv
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		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: 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
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C1837464
Disease: Small eyes
Small eyes 		0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886039814
rs886039814 		0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1451698951
rs1451698951 		1.000 0.080 4 39199546 missense variant G/A snv 4.0E-06
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