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: 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: rs1215108056
rs1215108056 		1.000 0.120 4 39224887 missense variant G/C snv 8.3E-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: 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
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: 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
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: 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: 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: 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: 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: 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: 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: rs587777350
rs587777350 		1.000 4 39205232 stop gained C/T snv
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0
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