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: 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: rs377160857
rs377160857 		1.000 0.120 4 39205726 missense variant G/A snv 2.7E-05 5.6E-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: 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: 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: 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: 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: rs766029437
rs766029437 		1.000 4 39194579 missense variant G/A snv 8.1E-06 2.1E-05
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 1.000 2 2013 2013
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