WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
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: rs371669862
rs371669862 		0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 6 2011 2018
dbSNP: rs371669862
rs371669862 		0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 6 2011 2018
dbSNP: rs1050086118
rs1050086118 		0.925 0.080 2 19946549 stop gained G/A;T snv 4.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2017 2017
dbSNP: rs1558342399
rs1558342399 		0.925 0.080 2 19953834 missense variant C/T snv
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2017 2017
dbSNP: rs267607174
rs267607174 		0.925 0.120 2 19945787 missense variant T/C snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.800 1.000 1 2010 2010
dbSNP: rs3731663
rs3731663 		2 19989328 intron variant C/A;G;T snv 0.54
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs746128772
rs746128772 		0.925 2 19914054 synonymous variant C/T snv 1.6E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 1 2015 2015
dbSNP: rs746128772
rs746128772 		0.925 2 19914054 synonymous variant C/T snv 1.6E-05
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2015 2015
dbSNP: rs765513105
rs765513105 		1.000 2 19982471 missense variant C/T snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 1 2017 2017
dbSNP: rs1050086118
rs1050086118 		0.925 0.080 2 19946549 stop gained G/A;T snv 4.0E-06
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1327489348
rs1327489348 		0.925 2 19962311 frameshift variant -/C delins 4.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs1327489348
rs1327489348 		0.925 2 19962311 frameshift variant -/C delins 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs1553313859
rs1553313859 		1.000 2 19913645 missense variant C/A snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs1553316926
rs1553316926 		1.000 0.120 2 19935529 missense variant T/A 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: rs1553317813
rs1553317813 		0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs1553317813
rs1553317813 		0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs1553324519
rs1553324519 		1.000 2 19982552 intron variant A/T snv
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs1558342399
rs1558342399 		0.925 0.080 2 19953834 missense variant C/T snv
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267607174
rs267607174 		0.925 0.120 2 19945787 missense variant T/C snv
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387907085
rs387907085 		1.000 2 19946495 stop gained G/A;C snv 1.6E-05; 8.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs397515334
rs397515334 		0.925 0.120 2 19931375 frameshift variant G/- delins 4.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515334
rs397515334 		0.925 0.120 2 19931375 frameshift variant G/- delins 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs397515534
rs397515534 		0.925 0.120 2 19989284 splice acceptor variant T/C;G snv 8.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs397515534
rs397515534 		0.925 0.120 2 19989284 splice acceptor variant T/C;G snv 8.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397515535
rs397515535 		1.000 0.120 2 19931354 missense variant T/C snv 8.0E-06
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0