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: 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: rs79436363
rs79436363 		0.882 4 39273029 missense variant G/A snv 5.5E-05 1.5E-04
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.800 1.000 5 2013 2017
dbSNP: rs79436363
rs79436363 		0.882 4 39273029 missense variant G/A snv 5.5E-05 1.5E-04
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 4 2013 2017
dbSNP: rs79436363
rs79436363 		0.882 4 39273029 missense variant G/A snv 5.5E-05 1.5E-04
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 1.000 3 2013 2016
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: 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: 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: rs780847651
rs780847651 		0.925 4 39228692 splice donor variant T/C snv 2.2E-05 7.0E-06
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 3 2011 2013
dbSNP: rs780847651
rs780847651 		0.925 4 39228692 splice donor variant T/C snv 2.2E-05 7.0E-06
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 1.000 3 2011 2013
dbSNP: rs587777351
rs587777351 		0.925 4 39274945 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 1.000 2 2013 2013
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: 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: rs587777351
rs587777351 		0.925 4 39274945 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0
dbSNP: rs587777352
rs587777352 		0.925 0.120 4 39273062 splice donor variant G/A;T snv 2.6E-05 3.5E-05
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 0
dbSNP: rs587777352
rs587777352 		0.925 0.120 4 39273062 splice donor variant G/A;T snv 2.6E-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: rs199812132
rs199812132 		1.000 4 39205660 missense variant C/G;T snv 4.1E-06; 2.9E-05
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 1.000 2 2013 2013