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: 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: rs776967770
rs776967770 		1.000 4 39185807 missense variant G/C;T snv 6.2E-06
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.700 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: 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: 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: 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: 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: rs745603321
rs745603321 		1.000 0.120 4 39277103 missense variant G/A;C snv 4.0E-06; 4.0E-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: rs772599282
rs772599282 		1.000 0.120 4 39244470 stop gained C/T snv 8.0E-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: rs786204852
rs786204852 		1.000 4 39189694 missense variant T/A snv 8.1E-06
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.800 0
dbSNP: rs786205114
rs786205114 		1.000 4 39255913 stop gained -/A delins
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0